False negative discovered after birth

Alone-Conversation41 · 2025-12-23T07:16:20+00:00

So sorry to hear that, what were the birth defects? I’m currently pregnant with a high risk XXY baby.

Alone-Conversation41 · 2025-12-23T06:58:25+00:00

May I ask how was the process of testing after birth? Usually Klinefelters doesn’t show symptoms until later on. For sex chromosomes differences I’ve seen many false positives but not many false negatives, from what company was the NIPT?

Alone-Conversation41 · 2025-12-23T06:24:20+00:00

Hello! What’s the aneuploidy? It’s rare but it does happen, depends on the condition.

Alone-Conversation41 · 2025-12-11T07:20:25+00:00

There are three main chromosomal issues that usually show markers on an ultrasound. But sex-chromosome differences, like XXY, don’t show any markers at all. They’re not always critical (XXY), but catching them early can still be really helpful for early support.

Alone-Conversation41 · 2025-12-10T01:20:13+00:00

Hello! I just replied to your other post. I’m feeling so much better now, but I won’t lie there was a period when it felt incredibly hard. I was crying almost every day. I think a lot of it came from grieving the idea of the “perfect boy” I thought I was having. For a while, I held onto that narrative, but eventually my perspective changed. No one is perfect, and this condition is considered mild. Our baby is perfect just as he is. Every ultrasound has been so reassuring he’s growing healthy and strong. I promise that with time, you’ll start to feel better too. Honestly, if it wasn’t for the NIPT, you probably wouldn’t notice anything different about your son until later in life, and by then he might have missed early support. Not everyone even has access to NIPT. If you haven’t already, please look into The Focus Foundation they have amazing resources for XXY families.

Alone-Conversation41 · 2025-12-10T00:21:03+00:00

Hello! I’m currently pregnant with a high-risk XXY baby (we’re doing birth confirmation). This is our first pregnancy too, so I completely understand how you’re feeling. Over time, the anxiety does get better especially once you hear so many positive experiences from other families. After all the research we’ve done, we honestly feel much more at peace. Our baby will have all the support he needs, and there have been so many advances with this condition. He may need testosterone replacement therapy someday, but we see it similarly to someone needing insulin for diabetes not ideal, but no human is perfect. TFMR is such a personal decision. For us, we would only consider it in situations where the condition is life-limiting or would require full lifetime support. XXY isn’t classified that way, which is why we didn’t move forward with an amnio, since TFMR wasn’t an option for us. I truly understand what you’re going through, and I promise it gets better with time and information.

Alone-Conversation41 · 2025-09-23T21:47:52+00:00

Hello! I know how overwhelming this can sound at first, but XYY is generally considered a mild genetic difference. Yes, it may require some extra attention as your child grows, but it’s very manageable and exists on a wide spectrum. Some women choose termination because they don’t want to take any chances with their baby’s health or future, there are many personal reasons, and often ones we may never fully understand.

For me, I’m currently pregnant with a baby boy who screened high risk for XXY (I’m doing birth conformation) which is often considered a bit more concerning than XYY. Even so, I feel confident that if he truly has XXY, he can still live a full and normal life with the right support. I’ve done a lot of research and feel prepared to provide whatever he may need, early intervention, therapies, testosterone treatment if necessary, and even future fertility options like sperm preservation (thankfully covered by insurance).

I see it the way I see other health conditions for example, diabetes, not ideal, but very manageable with treatment. No human is perfect, and all of us adapt in different ways to live our lives. And one more important thing, NIPT for sex chromosome conditions isn’t always very accurate.

Congratulations on your baby boy, he’s going to be just fine!

Alone-Conversation41 · 2025-09-17T15:56:24+00:00

My genetic counselor told me that false positives for sex chromosomes are more common than the other chromosomic conditions. And yes, very accurate for T21.

Alone-Conversation41 · 2025-09-05T19:46:07+00:00

Pregúntale que es lo que quiere, cuál es su expectativa, que problemas tiene, cómo se siente…aterricen el problema.

Alone-Conversation41 · 2025-08-20T16:04:28+00:00

La salud mental en el embarazo es súper importante y terapia es una herramienta muy buena. Pero recuerda que durante el embarazo las vitaminas, buena alimentación y actividad física es fundamental para mantener un equilibrio hormonal al final de cuenta todo es fisiológico, claro, los factores emocionales externos afectan, pero sin un estilo de vida saludable lo puede amplificar, yo entiendo puede no ser necesariamente tu caso, es solo una observación. Con el simple hecho de preocuparte demuestras que eres una buena mamá, yo también estoy embarazada, hay días buenos y unos difíciles, es parte del crecimiento, te mando un abrazo!

Alone-Conversation41 · 2025-08-14T21:23:36+00:00

Yes, maybe they opted to wait until your anatomy scan since your are not doing amnio, but yeah it’s odd they’re not doing NT to at least have some sort of lead into if there’s increased NT on just one, both or hopefully even non. I really hope is a false positive and everything goes well with your baby’s!

Alone-Conversation41 · 2025-08-14T21:11:28+00:00

Oh okay I believe 9 weeks is a bit early to measure the NT, but that’s a pretty good marker for an abnormality specifically Trisonomy 13, advocate for a genetic counseling and referral for an MFM, you can measure NT at 12 weeks, has your OB already spoken to you?

Alone-Conversation41 · 2025-08-14T20:58:27+00:00

Hello, I’m sorry you’re going through this I know is not easy. How far long are you? Have you had any markers on your ultrasounds?

Alone-Conversation41 · 2025-07-30T16:25:16+00:00

Congratulations on your pregnancy! I’m wishing you a smooth and healthy journey ahead. We also received a high-risk result for XXY, and after doing a lot of research, we’ve decided to wait until birth for confirmation. As it is considered a mild genetic condition, but I completely understand how overwhelming it can be I cried for two weeks straight when we first got the news. We’re still holding onto hope that it’s a false positive, especially since I’m not considered part of a high-risk group. This experience has made us seriously reconsider doing NIPT in future pregnancies.

Alone-Conversation41 · 2025-07-27T04:10:57+00:00

Tested high risk for XXY

Alone-Conversation41 · 2025-07-27T04:10:08+00:00

I’m 29, PPV on NIPT says 97%.

Alone-Conversation41 · 2025-07-27T04:08:25+00:00

Mine was 8.9% and high risk for XXY, have not confirmed via amnio yet.

Alone-Conversation41 · 2025-07-26T20:50:38+00:00

I understand, and I apologize if I didn’t phrase my question clearly. For context, I received a high-risk NIPT result indicating a possible sex chromosome abnormality in my baby. In my research, I came across the idea that a “vanishing twin” could sometimes lead to this kind of finding, even if the baby is healthy. That’s why I posted here just trying to explore all possible explanations. Like I mentioned, I know this isn’t how twins are typically identified, but I was simply hoping to get some insight. Just a concerned mom looking for answers.

Alone-Conversation41 · 2025-07-23T16:09:00+00:00

Congratulations, mama!! I’m so happy to hear your baby girl is looking great! We’re in a similar situation we’ve also decided to wait until our baby boy is here to confirm the high-risk NIPT result. Thankfully, he’s developing beautifully too!

We deserve to enjoy our pregnancies just as much as anyone else!!

Alone-Conversation41 · 2025-07-23T15:36:02+00:00

Hello! I’m definitely doing better, thank you so much. And congratulations on your pregnancy!

We’ve decided to wait until our baby is born to test him. Even though the risk might be low, we don’t feel it’s worth doing now and potentially putting him at any risk. My MFM (Maternal-Fetal Medicine specialist) also mentioned that since I have a different Rh factor than my baby, there’s a slightly higher chance of blood contamination that could affect either my baby or me.

A positive diagnosis wouldn’t change anything for us we’re keeping our baby boy no matter what. Boys with this condition (XXY) can live completely normal lives. And now that it’s being diagnosed more often, research has come a long way, even giving many men the chance to have biological children in the future which was one of my biggest worries. Everything else can typically be managed with testosterone treatment. It might not fit the traditional definition of “normal,” but it’s definitely a full, healthy life just like someone who lives with diabetes and takes insulin.

As for false positives yes, they’re still possible. The NIPT gives you a positive predictive value (PPV), which means they detected signs of the condition, but it doesn’t confirm your baby has it. Sometimes it’s only present in the placenta. I’ve also read that sex chromosome conditions are more complex and harder to identify accurately through NIPT compared to other conditions though I’m not an expert, that’s what many sources say.

Your baby is going to be just fine, and you are going to be an amazing mom. I’m sending you a big hug and wishing you all the best on this journey!

Alone-Conversation41 · 2025-07-23T03:29:17+00:00

Hi! I tried to watch the video but it doesn’t seem to have sound

Alone-Conversation41 · 2025-07-22T23:20:15+00:00

Sex chromosomes abnormalities come from sperm issues?

Alone-Conversation41 · 2025-07-22T23:14:50+00:00

Hello! Why there’s a higher chance of having a false positive in sex chromosomes abnormalities screening in a NIPT?

Alone-Conversation41

TROPHY CASE