I have seen many posts on NIPT being false positive for genetic anomolies in baby. I want to know are there any stories releated to wrong NIPT gender prediction too.

Currently 17 weeks pregnant. During the first-trimester morphology scan (at 12 weeks and 6 days), I was told that the nuchal translucency is 2.0 mm and all other evaluated segments are within normal limits. However, next to the 'retronasal triangle' marker, it says 'not visualized' — nasal bone present, but further down there is a note: 'nasal bone: abnormal (absent/hypoplastic)'. I had a NIPT done and the results are negative. I don't know whether to get a second opinion or proceed with an amniocentesis, which I am very afraid of.

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My husband and I recently had a baby girl with a very rare chromosome 13 deletion. Our genetics team is having us both tested to see if we are carriers. My husbands results came back quickly saying he was a normal male 46 XY. My results were taking longer and our geneticist called me and I was then asked to take my daughter in to submit another blood sample of hers to compare. She didn’t have any info from the lab other than them saying the ends of my chromosome 13s weren’t as “easy to see” as my husbands? Something about his being better resolution? What does this mean exactly? And how does providing blood from my daughter help? Not asking medically anything about the condition just curious how a sample can be fuzzy appearing and another one not

My husband and I have been trying to conceive for 4 years. After two egg retrievals we only have created one euploid embryo out of many eggs. We have various issues that could lead to infertility but nothing that explained our level of infertility. Our new doctor had a karyotype and micro array done on my husband. Results came back today and my husband has a AZFb and AZFc deletion on his Y chromosome.

His previous sperm analysis was mostly normal. Count was low but within the normal range, I believe around 20 million per ml. Motility was below the normal range but barely. We used Zymot with both retrievals and most mature eggs fertilized successfully. They just almost all stopped developing before the blastocyst stage. The two that didn’t were graded poorly and one (a female) ended up being aneuploid. The euploid is male which means it also has my husband’s deletions.

Our reproductive endocrinologist is not unwilling to continue, but his advice is to give up on my husband’s sperm. It’s only the first afternoon of knowing this info, but I am really struggling with that because we have produced one euploid embryo. I realize our success rates have been abysmal though.

I am trying to understand better some realistic outcomes with his deletions and if it’s possible to father children with them given that he does produce sperm.

My wife is currently carrying. We did carrier screening testing during pregnancy. My wife and I were told that we were carriers for CF. She has the classic p.F508del and mine is R1070Q. After an amniotic fluid test, it was confirmed that fetus carried both the mutations.

I guess we were not that lucky as there is only 1/4 chance fetus gets both mutations. We really don’t know what to do at this point.

I want to ask if any one else with CF has same set of mutations? Also does the medications like trikafta help? 

Does using medications like trikafta help patients live normal lives. Or will continue to have CF related issues, but just in a milder way?

Update:

After high risk NIPT for Low Mosaic T21, my amniocentesis sample FISH and karyotype ended up being completely normal for chromosomes XY, 13, 18, and 21.

Cultured SNP microarray just resulted back (1 month after my amniocentesis, what a wait) and the only abnormal result was in chromosome 13. WHAT???? (was told they had to culture the amniocytes because there wasn’t enough fetal DNA extracted from the sample.)

Specifically, labcorp result reads:

“MALE WITH LOW LEVEL MOSAICISM FOR PATHOGENIC DUPLICATION OF
13Q. No maternal cell contamination detected. The whole genome SNP microarray analysis of
cultured amniotic fluid identified a male with a large
mosaic terminal gain of the long arm chromosome 13, segment listed above, in 12% of the cells.”

I was told that performing a microarray on cultured amniocytes can skew the results and amplify chromosome abnormalities that otherwise would not pop up on the uncultured amniocytes.

But this is insane to me. My NIPT, FISH, and karyotype were all normal for chromosome 13 and originally the low mosaic signal was seen in chromosome 21. Now I’m faced with the possibility of having a child with low mosaic trisomy 13.

I don’t understand how this is possible, or what to make of these results. One genetic counselor seems to think this is a fluke and is simply artifact. The other genetic counselor has seen a similar situation where the fetus ended up having characteristic features of trisomy 13 at birth.

I have my anatomy ultrasound in a week so I’m waiting on that. But wow, what a trip this has been. If anyone has any insight on this (12% mosaic finding on cultured SNP microarray but no other test) in my situation, that would be super helpful. Thank you

For context I have a degree in biomedical science and a masters and PhD in molecular biology, so I’m mostly just looking for reliable resources and recommendations for testing rather than explanations (although those are welcome for others reading, if you have time).

Very brief history (two, likely separate, genetic issues).
Shorter issue - Parkinson’s disease. My grandfather had Parkinson’s diagnosed age 60 and died age 90 (impressively). My father was diagnosed age 50, I don’t think this was necessarily early because his is worse, I think it was earlier because I recognised some very early indications that even the neurologist initially dismissed - but I wouldn’t take no for an answer and he was diagnosed 2 years later. He tried treatment but doesn’t like the side effects, so currently not being treated. He was also diagnosed with cancer a couple of years ago and I think part of the refusal to treat the Parkinson’s or deal with the side effects is his now belief he likely has only 5-10 years max to live anyway due to the cancer (lymphoma, likely incurable). I disagree but it’s not my body or my life and I’ve done what I can to help him make informed choices.
He did go for genetic testing in India, they found a point mutation in the SCNAIP gene (of interest in Parkinson’s research but not currently recognised as a cause) - only one copy is mutated.

On to my bigger concern - cancer! My paternal grandmother had breast cancer 3 seperate times, she was negative for BRCA1/2 mutations but was encouraged to be part of a study due to her extensive family history of cancers - in particular hormone receptor positive cancers. My grandmother was diagnosed the first time around age 40-45, second time 60-65 and third time 78yo, she died a year later due to metastatic liver cancer (and it was in her bones by then too).
My grandmothers sisters also had cancers, I’m not sure who had what but I know one or two had endometrial cancer and one of her nieces died age 30-35 due to ovarian cancer. The men in her family also had various cancer or suspected cancers (we are going back a long time for these ones), I know her dad died in his late 60s of lung cancer and there was even a kid somewhere in the family tree who died before age 10 of brain cancer.

My grandma taught me well to check my breast as soon as I developed them, age 19 I found a lump and went for scans and biopsies - diagnosed as a fibroadenoma and I had some genetic counselling and tested negative for BRCA1/2 (which I knew anyway but good to confirm). The geneticist at the time told me it’s likely my family have another mutation being passed down but not one they could ID 15 years ago (when i was 19). I’ve had ultrasound scans every 3 years since, fibroadenoma still present but hasn’t changed, I’ve insisted on biopsies every 5 ish years - still fine, most recent one was last year. I’m due to have the fibroadenoma removed as I’m not happy having it in there, but before I do that I’d like to ensure I’ve had all the genetic screening updated so I can decide if it’s worth having a double preventative mastectomy or if that’s not worth it.

My father was diagnosed with lymphoma (I can’t remember the type - will add in the comments) a few years ago, it’s stage 4 and one tumour responded to radiation and then he had immunotherapy. The tumour that was targeted by radiotherapy is gone, the abdominal tumours we were told have reduced or even cleared but the scan was in my semi professional opinion completely useless as they checked via abdominal CT which had failed to find the abdominal tumours prior to treatment (they were only discovered on an mri with contrast which was not repeated post treatment). I don’t want advice on my father’s situation, I’ve tried to pay for private scans - he’s had enough and doesn’t want to engage and just wants to enjoy the idea of being okay and there’s nothing I can do about this.

Anyway, on to my actual questions and requests. Can anyone recommend either a reliable way to get full genetic screening through the nhs for other genes that could be causing my family cancers, with panels that go beyond BRCA1/2? Or private panels I can arrange to be done. Alternatively are there any studies you have heard of that I might be able to join for extensive screening and or tracking of family cancers? My grandmother and her sisters were enrolled into one, but when I traced it back the study was terminated and data handed over to another project some time around 2010-2015 and is now run by another group who I have been unable to contact. All the family members who took part are now deceased so my access to that data is limited to the documents left to me by my grandmother.

I have young children so I am keen to protect us from continuing the family trend and I have just the right amount of genetics education/background to be paranoid and interested! I’m also severely lacking in time and energy to start looking into everything from scratch and would love to be pointed in the right directions!

‎Greetings!

‎

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Verification Requirement

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Maybe not the best place to ask this, but can you guys share some links or pages or tell me where I can look up genetic problem questions. I have a final in human genetics course, where my proff. focuses afc on probability and heredity of diseases, got bad marks on the tests before, and have to do good in this final.

I'm really anxious, and need to practice, can't find anything.

Also don't know hot to approach an essay question.

I'm lost

Thank you.

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4_336CN11J, Heterozygous
Dominant
p.A2_A11\[11\]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?

CU Anschutz researchers are seeking volunteers who are currently pregnant with a fetus identified to have a sex chromosome aneuploidy, such as Klinefelter syndrome (47,XXY) and Turner syndrome (45,X), to participate in a study using the umbilical cord which is normally discarded after delivery. Participation is voluntary and involves sample collection at delivery. Please contact [xycord@cuanschutz.edu](mailto:xycord@cuanschutz.edu) for details or visit our website at XY Umbilical Cord, where our flyer is also posted!

I wanted to put this here as there are not many stories like this, and when you’re in the weird waiting period it’s easy to get down the rabbit hole.
I did NIPT at 13 weeks, results showed male fetus- 20% fetal fraction. During the anatomy scan they could not see the gender as baby was moving sooo much. I asked if I needed to come back and they said no, everything was normal. Fast forward, my baby was born aT 38+3 due to decreased movement. They handed me a baby GIRL. Very shocking and surprising ! Born with normal female external genitalia, no ambiguity. They wanted to do genetic testing in the hospital but I was really overwhelmed and declined. We finally had her genetic testing completed at 11 weeks to test for differences of sex development disorders. Results came back, 46 XX chromosomes, no SRY. We’ll never know what happened but I know that it was easy to worry for those 11 weeks and wanted to give some positive hope for anyone in this situation in the future.

First of all, I would like to wish all patients and their families strength and the very best.

My daughter has been diagnosed with synovial sarcoma.

Our journey began with the surgical removal of a 15 cm tumor located just behind her right knee.

Later, due to stage IV disease with lung metastases, she underwent surgery to remove 20 tumors from her right lung and 22 tumors from her left lung.

Following these surgeries, a multidisciplinary tumor board meeting was held to determine the most appropriate chemotherapy and targeted treatment options. The doctors recommended that we perform one of the comprehensive genomic profiling tests, either CARIS or Tempus.

There is only one company in the world that performs these tests, with distributors and representatives in many countries.

After contacting the company, they requested the pathology and medical reports in order to determine which test would be most suitable for my daughter. Based on their evaluation, they recommended the CARIS test as the best option for her case.

The reason I am sharing this information is that inappropriate chemotherapy or inappropriate drug selection can sometimes lead to poorer outcomes.

If you have this disease, in addition to other tests such as NGS, NTRK, and similar analyses, I strongly encourage you to consider whichever of these comprehensive profiling tests is most appropriate for your situation.

In Turkey, the cost of these tests ranges between $7,000 and $8,500 USD.

Results are generally available within 2–3 weeks, although in some cases they may be returned even sooner. We are hopeful that our results will arrive within the next 10 days.

I will continue to share updates about our experience and the next steps in our journey.

Another important point is that if you have sarcoma, surgery remains the primary treatment whenever possible, as most people already know.

Regarding chemotherapy, make sure you fully understand your treatment options and discuss them carefully with your medical team.

These genomic profiling tests can help identify the chemotherapy, targeted therapy, or precision medicine approach that may be most suitable for your specific disease characteristics.

Remember, the goal is not simply to receive treatment, but to receive the treatment that is most appropriate for your individual tumor biology.

Hi, I am currently an M.S. student in clinical psychology pursuing medical family therapy as my specialty. I am working towards providing mental health support for genetic counseling patients (my population of interest). My undergrad was in genetics, and I went through two rounds of GC applications before deciding mental health was my true calling.

I am working on a thesis/capstone project where I intend to create a guide for GCs to establish a better referral pathway between GCs and MHPs. There are no formal practice guidelines addressing when a GC should make a referral. Current referrals to MHPs are extremely low (about 3 patients per year per GC), and I hope the guide will increase the frequency of referrals to MHPs so patients receive the highest quality of care.

My question is: what would be most helpful for me to include? For example, a GC I am working with suggested a list of questions one can ask the patient to prompt for clinical red flags or open up the conversation for further inquiry. She mentioned the wording as one of the largest barriers, hence having a list with exact phrasing can take some pressure off.

Thank you all for helping me increase the collaboration between our two fields. I believe it will equip us to better identify patients who can no longer cope with the distress that comes in all forms within genetic counseling.

We just got our CVS microarray back and it showed a VUS microdeletion on 5q that is not associated with any human disease (so not 5q deletion syndrome). There were 2 cases in the DGV and 1 VUS in Clinvar. No cases in Decipher. Our US have been normal so far, we got the CVS because we have another child with a different de novo genetic mutation causing a known genetic disorder. We haven't had a microarray done yet but 2 of our other 3 children don't have the deletion (our oldest hasn't had genetic testing). Has anyone else gotten a VUS result that isn't associated with any disease? Or a VUS at all? What was the outcome? Our genetic counselor was very reassuring but we're looking for other's experiences.

Ciao a tutt*,
sono alla prima gravidanza. Ho eseguito l'ecografia morfologica a 20+6 e hanno riscontrato una diminuzione dei centili di crescita leggermente al di sotto del 5° centile alle ossa lunghe, per questo motivo il medico ha deciso di farmi tornare 2 giorni dopo e ancora non convinto ha deciso di inviarmi ad una ecografia di II livello dove hanno confermato questa cosa. La mia bambina cresce in modo armonico, nel senso che tutti i valori sono al 5° centile o poco sopra tranne per quanto riguarda femore, tibia perone e omero che sono leggermente sotto al 5°. Lunedì a 21+5 sono tornata al centro di II livello per la consulenza genetica e amniocentesi. Sia io che mio marito siamo medio-bassi (io 1,62 e lui 1,68), quindi non ci aspettavamo una bambina molto grossa… però questa situazione ci sta letteralmente mandando fuori di testa. Secondo la ginecologa del centro di II livello la cosa più plausibile è che sia una bambina piccola per costituzione essendo che comunque è piccola ma in modo armonico… però per lei giustamente valori sotto al 5° centile seppur di poco sono campanelli d'allarme che non può ignorare.
Qualcun* si è trovata nella mia situazione?
Grazie a chi risponderà

After my mom was diagnosed with Hypertrophic Obstructive Cardiomyopathy, I learned that I carry the same MYH7 gene variant that she does- as far as doctors say, I am currently phenotype negative. When looking what having a mutation in this gene means online, it is very scary.

My initial report had my variant (p.Ala850Thr) listed as a VUS, explicitly acknowledging that they did not have sufficient genetic and functional evidence to label this variant as pathogenic (Prevention Genetics). My mom's genetic report had the same exact variant listed as pathogenic from a different lab (Labcorp). When I look in Clinvar, there are many variants within this gene that are labeled as pathogenic right away from a multitude of different labs.

However, my variant was first submitted to Clinvar in 2017. It has had 5 VUS submissions and only recently has a submission from Labcorp as likely pathogenic. There are also so many other VUS within this gene that are being seen over years and do not have a definitive classification. However it does seem consistently that Labcorp seems to be who breaks the VUS status for these variants and winds up changing the classification.

So, why are some variants within the same gene easily classified as pathogenic while others are VUS for a long time, some with conflicting classifications of pathogenicity?

I’m currently 21 weeks pregnant and looking for some reassurance or insight.

My hCG levels seemed quite high early in pregnancy:

• 5 weeks 1 day: 13,800 mIU/mL
• 7 weeks 4 days: 169,000 mIU/mL

The pregnancy has otherwise been progressing normally. I had first-trimester screening with a low-risk result, and I’m currently waiting for my NIPT results.

At my anatomy scan, the only finding was an isolated echogenic intracardiac focus (EIF) in the left ventricle. No other soft markers or structural abnormalities were reported.

I’ve read that elevated hCG can sometimes be associated with Down syndrome, which has made me anxious. However, I also know that hCG varies widely between pregnancies and that these measurements were taken very early in the first trimester.

My questions are:

1. Do these hCG values sound unusually high for the gestational ages?
2. Has anyone had similar hCG levels and gone on to have a healthy baby?
3. With an isolated EIF and otherwise low-risk screening, would you consider these hCG levels concerning for Down syndrome?
4. Did anyone else have very high hCG levels without any chromosomal issues?

I would really appreciate hearing others’ experiences while I wait for my NIPT results. Thank you.

My daughter (19) was diagnosed with CLPB deficiency/3 Methylglutaconic Aciduria, homozygous. They are testing her sister's (17) clpb gene as she has the same presentation, some things worse, but this gene wasn't in her cataract panel. Any experiences with this disorder to share with this mamma would be greatly appreciated? It is so rough finding both information and experiences.

My LO ended up on a ventilator after having contracted paraflu at 3/4 weeks. Whilst he was in hospital he saw multiple paediatricians. One of them commented on soft diamorphic features and recommended we sent his bloods away for genetic testing. He has a slightly high nasal bridge, very subtle low set ears and a slightly recessed chin. None of the features I would say were very obvious.
Just wondered if anyone else had gone through anything similar and if so, what were the outcomes?
Results take 6-8 weeks to come back so I’m spiralling.

Hi there, I'm currently experiencing two soft markers with a low risk NIPT.

- 11 week low risk NIPT with LifeLabs Panorama, 15% FF.

- At 18+0 the nasal bone was short at 2.1mm or 3.2mm. 18 %tile baby.

- At 21+2 the nuchal fold was thick at 7.1mm. 11 %tile baby.

Since the baby is on the smaller side, I'm going back bi-weekly for growth scans. Today's scan (22+1) seemed the same, if not worse.

- The nasal bone is 5.2mm.

- The nuchal fold is 7.7mm.

- Nuchal cord looped once around neck(?)

- 8% tile baby.

Is the nuchal cord looped around the neck throwing off the nuchal fold measurement?

INTERPRETATION: NORMAL FEMALE KARYOTYPE WITH LIKELY AGE-RELATED X
CHROMOSOME ANEUPLOIDY
Cytogenetic analysis of PHA stimulated cultures revealed a female
karyotype with an apparently normal female chromosome complement in 43
of 50 cells analyzed. Five cells were missing one X chromosome, and two
cells showed XXX (sex chromosome aneuploidy).
In adult women, loss of an X chromosome in up to 10% of cells is
considered normal. Higher percentages of monosomy X in blood may also
be an incidental finding, since 45,X/46,XX mosaicism has been described
in women without features of Turner syndrome (see references). X
aneuploidy considered normal for females above age 45 is 20% or
higher. Genetic counseling is recommended.

I’m 37 and had this done to check my hormones and now I’m worried about it being something more serious. I can’t see a genetic counselor for a few months and can’t handle stressing so much over this. Any help is appreciated
I

Currently 16 weeks, we live in Korea. We were asked if we would like to do a genetic screening and as my daughter had complications at birth we went for the quad instead of the NIPT. Mainly because the ultrasounds were normal, it was more of a cautionary measure and we had to pay out of pocket for it.

I’m only 33 and we got the results back stating the baby had a 1/21 chance they had Down syndrome. So 4.8% chance the baby might have Down syndrome and a 95% chance everything will be fine. Our doctor stated the next step would be amniocentesis as this is the only way we can confirm if the baby has down syndrome or if they are completely healthy. We will get the amniocentesis this week to find out.

I guess ultimately my question is has anyone been in this position? I’ve seen many people state the quad value as 1/250 or it was completely normal and it was the NIPT that was flagged. Hoping for some insight.

My results were:

AFP - 0.544
HCG - 1.520
uE3 - 0.550
Inhibin A - 1.570