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Question

Dear sir I am 38 years old my wife is 34 years old.We married five years back.My wife concieved 2 years after marriage but she had 13 weeks abortion.Second pregnancy is a DOWN SYNDROM baby(Two years old).Now we are planning for next BABY.We want to know whether we should go our (mine and my wife's)KARYOTYPING or we should go for pregnancy and go for aminocentesis of foetus and other investigations of foetus to rule out genetic abnormality.

Answer

For next pregnancy, you must do Maternal serum screening at 15 to 18 weeks of gestation:
Alfa-fetoprotein
Unconjugated estriol
Human chorionic gonadotropin

If a patient has had a trisomy 21 pregnancy in the past, the risk of recurrence in a subsequent pregnancy is still highly dependent on maternal age. If the previously affected pregnancy was a chromosome-21 translocation the recurrence risk is high.

Thus, if your previous child has a translocation on karyotype, then you must get both your karyotype done. If not, you may do amniocentesis or CVS in the next pregnancy and do the karyotype in the amniotic fluid or chorionic villus biopsy.
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