You work in a perinatal clinic and are shown the following c

You work in a perinatal clinic and are shown the following chromosomal sequencing depth results on blood taken from a pregnant person at 36 weeks of gestation. a) Based on these results, can you predict the sex of the fetus? Note what implicit assumption(s) you are making in order to make this prediction. b) Do these results suggest any trisomies? If so, of what chromosomes? c) You become suspicious of these results and suspect a bioinformatical error. What makes these results implausible? While non-invasive prenatal testing (NIPT) is increasingly common in the United States, it is not universally supported a) Make at least one argument for NIPT. b) Make at least one argument against NIPT. c) Contrast these arguments and discuss how you feel about NIPT (so long as you engage specifically with the arguments, there is no wrong answer to this question)

Solution

ans

Based on the above results the chances for production of female is more as X chromosomes determine female .If XX chromosome is present it gives female child and XY produces male

Trisomy is also present in the above results

17. Non invasive prenatal testing is a advance technique for the detection of fetal chromosomal aneuploides. that analyses cell free fetal DNA in the blood of pregnant mother. It is used for the detection of early birth defects in the feutus. Various genetic defects such as down syndrome can be detected early in the developing feutus

b. the moral case for using these tests for ‘information only\', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.

c

NIPT should be used for detecting the aneuploids in the feutus and various birth defects could be analysed by using NIPT but it should not be used for the detection of sex which is a crime