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Saturday, October 6, 2012

An interesting case with Genetic disorder

Mrs. N.  Bajiko 30 yrs. married for 5 years came to Infertility centre with secondary infertility in 2009. She complained of three abortions at 7-8 weeks gestation, two of them were curetted & one of which was ruptured ectopic right sided, for which she had undergone laparotomy.
Karyotyping of the abortus tissue showed Trisomy 20 (47 XX) (tested in Delhi).
Her blood PCR for MTB showed negative.
She had undergone treatment of danazol for six months for unknown reason.
Her menstrual history had normal cycle 35-36days with average flow for 3-4 days.  On examination, Wt = 70 kg BP = 120/80mmHg.
Laboratory investigation:
Semen analysis - Sperm count 200 mln/ml with 80% motility & 70% morphology
HSG showed both fallopian tubes patent
Hormone profile (D2) at Infertility centre
FSH = 6.5                  
LH = 2.3           
E2 = 120
PRI = 3.9
TSH = 10.9
Both ova & sperm could have role in recurrent abortion. Therefore, ovulation was induced with clomiphene form D4-D8.  When 2 follicles reached 18-20mm on transvaginal ultrasound, 10,000IU HCG was injected for complete development of follicles & maturation of ova which was followed by Intrauterine insemination(IUI) recovered conception.
Hypothyroidism was treated with 50mg thyroxin even during conception. She was also supplemented with Didrogesterone, Folic acid 10gm, vitamin B-complex till 12 weeks gestation, iron, calcium, prophylactic Anti-TORCH treatment with Rovamycin 3mIU till 20 weeks.
All routine tests at 20 weeks gestation including RBS were within normal limits.
She had severe itching at 28 weeks gestation which was treated with calamine lotion as her liver functions were normal. An early labor sign at 31 weeks were treated with isoxsuprine & salbutamol.
At 38 weeks, when placental maturity was assessed by scanning, an elective Caesarean section was planned & a beautiful baby girl was delivered. As the girl has completed 2 years, she came again for second trial for fertility & has conceived with just progesterone supplement & folic acid. Her pregnancy is at 20 weeks & the scan shows normally growing fetus.

Was this a case of genetic abnormality? If yes what cured her defective gene?