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?
