A 32 yrs lady having 10 yrs old child of down syndrome is presenting at 9th week of pregnancy. What will be advice by doctor? (AIIMS NOV. 2010)
|A||Blood investigation can definitely say if it is downs|
|B||USG diagnosis can be definite|
|C||Chorionic Villous sampling|
|D||There is no use of any further investigation as the patient age is <35 yrs|
Chorionic Villous sampling
The population risk for Down syndrome is approximately 1 in 800 live births and the recurrence risk after the birth
a. of an affected child is approximately 1%~2%.
b. Most researchers have found that fetal aneuploidy is the only congenital abnormality related to maternal age.
Older paternal age is associated with an increased incidence of genetic diseases caused by new autosomal-
c. Fragile X syndrome is the most common form of familial mental
a. Brandt Andrew method is the technique of delivering the placenta with the “Controlled cord traction” method.
b. MacFee and Johnson contended that in the absence of vaginal manipulation the first hemorrhage will never be fatal if the patient is carefully followed by this method, both the authors found marked reduction of fetal loss.
c. This revolutionary conception of fetal risk was attained by extreme conservatism:
i. The principle was laid down that no vaginal examination should be made unless and until it could be followed immediately by whatever treatment was required for delivery (e.g., caesarean section).
ii. Thus a patient would be put to bed to wait until the last few weeks of pregnancy, regardless of repeated "warning" haemorrhages so long as there was no undue anaemia; and with increasing experience there was less cause for alarm over any one apparently severe attack of bleeding.
iii. MacFee states significantly that "among these patients there has been nothing to confirm the belief that recurrent haemorrhages tend to lead up to one catastrophic hemorrhage."
iv. Credé’s method…is the act of vigorous massaging and squeezing of the fundus to force the separation of the placenta. This method is not approved since it can cause retention of placental lobes.