求助胚胎染色体问题

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xiaobaobao88
楼主 (北美华人网)
12周自然流产了,心里很难过,把胚胎送去做染色体筛查,结果发现罗氏易位 15,22,15三体。请问大家这种情况需要夫妻双方去做carrier screening吗?以后能不能自然怀孕必须做试管吗?
RESULT: ABNORMAL MALE KARYOTYPE WITH TRISOMY 15 SECONDARY TO AN UNBALANCED ROBERTSONIAN TRANSLOCATION INTERPRETATION: Metaphase cells show an abnormal male karyotype with an unbalanced Robertsonian translocation, der(15;22)(q10;q10),+15, resulting in trisomy for chromosome 15. This individual or her partner may be a balanced carrier of a der(15;22)(q10;q10) translocation that predisposed to the imbalance detected here. Carriers of Robertsonian translocations generally do not exhibit phenotypic or developmental abnormalities; however, the rearrangement may lead to decreased fertility, repeated pregnancy loss, chromosomally abnormal offspring, or (rarely) UPD. RECOMMENDATIONS: Genetic counseling is recommended. It is recommended that karyotype analyses be performed on this individu al and her partner. If either carries a related balanced rearrangement, other relatives may also be at risk. Regardless of carrier status, genetic counseling with respect to prenatal diagnosis in subsequent pregnancies is generally considered warranted for a couple who have had a pregnancy loss secondary to a structurally unbalanced chromosome rearrangement. NOMENCLATURE: 46,XY,+15,der(15;22)(q10;q10) ASSAY INFORMATION: Method: G-Band (Digital Analysis: MetaSystems/Ikaros) Cells Counted: 20 Band Level: 450 Cells Analyzed: 5 Cells Karyotyped: 5 This test does not address genetic disorders that cannot be detected by standard cytogenetic methods or rare events such as low level mosaicism or subtle rearrangements. A portion of the testing was performed at AMD11.
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iheartglass
你医生咋说? 染色体不正常挺常见的吧? 30岁的人染色体一半不正常 40岁的八成都不正常 很多不正常的要么没有着床 要么早期流产还以为是姨妈推迟 12周确实很让人难过 但是不是反复流产应该就没事
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Night.Owl
我怀孕前被医生推荐了去做了carrier screening, 和队友一起做的。走的是Natera家的horizon carrier screening. 各自抽一管血,大概7天后出结果,任何时间都能做,不需要等大姨妈。
Unfortunately, 我们的保险不包,于是我们每人自掏了$350的样子,还算可以接受的。这事,一辈子也就做一次了。
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cycycycycy
我去年也胎停过,第一次OB说没必要检查,如果反复胎停流产(2次以上)才有必要,但我回国时还是自费做了一个,结果还没出
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snowpenguin
Carrier screening 是查基因,你这是染色体数目异常,楼上说的查普通carrier screening这个没用的。如果怀疑是遗传性染色体问题应该查Karyotype,你自己Google一下,找你ob商量下。看你这个结果是你老公有第15号染色体平移,这个试管可以筛选解决的。先做Karyotype测试,同时约上试管医生吧。如果你没有问题的话做试管也不是特别难的,还是有希望的。Bless。
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xiaobaobao88
回复 5楼 的帖子
多谢,怎么知道是老公的问题呀
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lovewriting123
xiaobaobao88 发表于 2024-03-01 11:46
回复 5楼 的帖子
多谢,怎么知道是老公的问题呀

"Metaphase cells show an abnormal male karyotype with an unbalanced Robertsonian translocation"
这个报告上写了是男方
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xiaobaobao88
回复 7楼 的帖子
我感觉这个写的是胚胎的异常 胚胎是男性,不然的话没必要后面写的 This individual or her partner may be a balanced carrier
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lovewriting123
xiaobaobao88 发表于 2024-03-01 12:21
回复 7楼 的帖子
我感觉这个写的是胚胎的异常 胚胎是男性,不然的话没必要后面写的 This individual or her partner may be a balanced carrier

你这个推断也有道理。报告感觉不太清楚。为啥医生不给好好解释一下呀
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xiaobaobao88
回复 9楼 lovewriting123 的帖子
看起来不能确定
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dalianyin
你这是染色体问题 属于精卵分裂的时候出问题了 是运气不好
没有携带任何致病基因 减数分裂也会出现这种问题的 而且年龄越大 三体风险越高
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wintervest
让你ob refer you to a genetic counselors
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xiaobaobao88
回复 11楼 dalianyin 的帖子
真的会基因突变吗