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Genetics (Expert Forum)
HELP! Medical Mystery of Seismic Proportions
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AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
HELP! Medical Mystery of Seismic Proportions
by jhathaway, Jun 26, 2009 01:30PM
HELP! I have just lost my 4th child (she died in my arms at 20 weeks) and none of the doctors can find a connection. I'm trying to figure out if I should try for the 5th time, do IVF or go to adoption.
- Pregnancy 1: Termination @ 13 weeks,10/27/07. 27 years of age. Anatomic anomaly with no chromosomal basis. Encephalocele and omphalocele found during NT Scan. Chromosome analysis = normal kereotype, male.
- Pregnancy 2: Chemical pregnancy, 2/08. 28 years of age. Positive HcG beta at 11DPO, beta returned to 0 at 19DPO. Spontaneous miscarriage at 5 weeks 1 day. No chromosome testing.
- Pregnancy 3: D&C @ 12 weeks, 6 days, 5/16/08. 28 years of age. Missed miscarriage, baby died in utero and measured 7 weeks 2 days. Found during NT Scan. Chromosome analysis = normal kereotype, male.
- Pregnancy 4: Termination @ 20 weeks, 6/20/09 via induced vaginal delivery. 29 years of age. NT Scan measurement = 2.5, risk for DS was 1 in 700. Hypoplastic Left Heart Syndrome found during level 2 ultrasound at 19 weeks 2 days. Amniocentesis = normal, female. (now in the middle of getting a microarray test done.)
Noteworthy Insight
− Donated eggs in college four times, two of which did NOT yield children for the recipients. The other 2 I don't know.
− Thyroid (TSH) panel = normal, Glucose = normal, Thrombophilia panel = normal, Anti-Mullerian Hormone (AMH) Test = 2.9, normal, Hysterosalpingogram (HSG) = normal
− 2 year review, length of cycles = 31 – 42 days. Ovulation = CD17 – 24.
− Progesterone during early testing is always good, above 50 at 16DPO.
− Husband semen analysis = volume, 89 million per mil. Motility, 72%. Morphology = 20%.
− Husband fathered a normal male in 12/2000 with another partner. Child has no health concerns except ADHD and perhaps slower learning.
- Pregnancy 1: Termination @ 13 weeks,10/27/07. 27 years of age. Anatomic anomaly with no chromosomal basis. Encephalocele and omphalocele found during NT Scan. Chromosome analysis = normal kereotype, male.
- Pregnancy 2: Chemical pregnancy, 2/08. 28 years of age. Positive HcG beta at 11DPO, beta returned to 0 at 19DPO. Spontaneous miscarriage at 5 weeks 1 day. No chromosome testing.
- Pregnancy 3: D&C @ 12 weeks, 6 days, 5/16/08. 28 years of age. Missed miscarriage, baby died in utero and measured 7 weeks 2 days. Found during NT Scan. Chromosome analysis = normal kereotype, male.
- Pregnancy 4: Termination @ 20 weeks, 6/20/09 via induced vaginal delivery. 29 years of age. NT Scan measurement = 2.5, risk for DS was 1 in 700. Hypoplastic Left Heart Syndrome found during level 2 ultrasound at 19 weeks 2 days. Amniocentesis = normal, female. (now in the middle of getting a microarray test done.)
Noteworthy Insight
− Donated eggs in college four times, two of which did NOT yield children for the recipients. The other 2 I don't know.
− Thyroid (TSH) panel = normal, Glucose = normal, Thrombophilia panel = normal, Anti-Mullerian Hormone (AMH) Test = 2.9, normal, Hysterosalpingogram (HSG) = normal
− 2 year review, length of cycles = 31 – 42 days. Ovulation = CD17 – 24.
− Progesterone during early testing is always good, above 50 at 16DPO.
− Husband semen analysis = volume, 89 million per mil. Motility, 72%. Morphology = 20%.
− Husband fathered a normal male in 12/2000 with another partner. Child has no health concerns except ADHD and perhaps slower learning.
Doctor's Answer
by Jordanna Joaquina, MS, CGC, Jul 01, 2009 11:49AM
, Jul 01, 2009 11:49AMTo: jhathaway
We are sorry for your losses and hope that you and your husband are receiving the support you need. Pregnancy loss or the birth of a stillborn child can result from many different causes including genetic causes, non-genetic causes, or a combination of both.
As you know, evaluations may include different specialties such as genetics, maternal fetal medicine, reproductive endocrinology, and gynecology. Evaluations and tests may take time to complete, which can often be stressful. Unfortunately, sometimes, even after numerous evaluations and tests, a cause is still not found.
Detailed pregnancy (including fetal abnormalities), personal and family histories should be assessed in order to prioritize which evaluations and tests will likely be the most informative. Autopsy and pathology may also help prioritize which genetic tests (if any) can be performed. We recommend that you and your husband meet with a clinical geneticist. A medical geneticist can be found at the American College of Medical Genetics website. We wish you the best.
As you know, evaluations may include different specialties such as genetics, maternal fetal medicine, reproductive endocrinology, and gynecology. Evaluations and tests may take time to complete, which can often be stressful. Unfortunately, sometimes, even after numerous evaluations and tests, a cause is still not found.
Detailed pregnancy (including fetal abnormalities), personal and family histories should be assessed in order to prioritize which evaluations and tests will likely be the most informative. Autopsy and pathology may also help prioritize which genetic tests (if any) can be performed. We recommend that you and your husband meet with a clinical geneticist. A medical geneticist can be found at the American College of Medical Genetics website. We wish you the best.
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