Thank you in advance for your help with this issue. Right now, all of this is hypothetical… but I am trying to gather advice since I hope to be married someday soon and start a family, G-d willing.
I have a sister who was born with a severe genetic disorder called 5p- syndrome, also called Cri du Chat. Like my mother and my other sister, I have what has been called "mosaic" chromosomes.
So we don't have the disorder ourselves, but we can pass it on to our children (the mosaic spontaneously appeared in my mother).
I have talked to Dr. Joan Overhauser, a geneticist who is a specialist in this disorder and knows the karyotype of my family. The situation is that, statistically, I have a 50% chance of having a child affected by the syndrome. However, in reality, many of the affected fetuses (but not all), would spontaneously abort, leaving about a 15% chance that I would carry to term a child with the syndrome.
The geneticist advised me that the following options are available to me, from a purely medical point of view (she knows that I am orthodox and has advised me to speak with a Rabbi about this issue): -CVS sampling, which she mentioned is done at about 10-11 weeks, to test for the abnormality using a new technique called FISH, and then possible termination of the pregnancy. She says it would be very easy to determine the chromosome make-up of the fetus since they would know exactly what to look for already. -amniocentesis testing done at a later time, and then possible termination of the pregnancy -in-vitro fertilization followed by blastocyst testing, with implantation of normal embryos (very involved and expensive procedure but has been used for such purposes) -no intervention My question is, what is the best way to cope with this situation from a halachic standpoint? Also, if in-vitro fertilization and blastocyst testing were permitted, but the procedure was too expensive (estimated at $10,000 to $20,000 here in the U.S.), would there be other options?
It is difficult to convey how much I appreciate your attention to this question.
In the meantime, I looked up early CVS on the internet and saw warnings associated with the procedure — possible deformities, G-d Forbid, caused to the limbs of the embryo. I will try to find out whether the genetic test I would need could be performed at 7 weeks. I am guessing that Rabbi Halperin might say the whole testing procedure and possible termination would have to be completed before the embryo was 40 days old. I am also interested in finding out more about what would be involved with the IVF/blastocyst testing. i.e., is it permitted, and how would it affect a couple trying to have children? Is it considered the preferred route, halachically? Thank you again, very much,
5p- syndrome (Cri du Chat) is a disorder that often involves serious cognitive and communicative impairment. On the other hand, it usually does not entail the medical dangers associated with certain other genetic disorders. As such, the leniencies for abortion at a later stage are limited.
Therefore, the preferred halachic option is PGD and blastocyst testing, if funding is available. Alternatively, if CVS can be done by the end of the seventh week (from LMP) to allow time for termination of pregnancy within 40 of conception (middle of 8th week LMP), this is a similarly preferred halachic option.
Otherwise, CVS sampling, which is done during the first trimester, should be used. A number of authorities allow termination of pregnancy at this stage when severe fetal defects are determined. [The risks of embryo deformation due to the procedure mentioned in the question are not common nowadays.]
It is recommended to also contact Machon Pu'ah, who specialize in issues of fertility and halacha (Tel +972-2-561-50-50).
Rabbi Meir orlian