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Did your prenatal screening test indicated a genetic risk ? Do you have a previos conception, child or family number affected with genetic condition? Did you have 2 or more pregnancy losses? If yes I may be able to help you with your ongoing or future conception.

RECURRENT PREGNANCY LOSS

Explore if a genetic factor is causing your pregnancy loss

Recurrent Pregnancy loss effects about 5 % of couples trying to conceive. It is a shattering and distressful condition for couples and is majorly caused due to genetic factors. Therefore couples with RPL need to be screened for any these genetic factors (gene abnormalities) that might be causing this condition. Most couples don’t understand this. Even if they are physically normal they may be carriers of certain genetic abnormalities that might manifest in the embryo causing it to miscarry repeatedly. Genetic Counsellors will counsel the couple’s regarding the suspected causes and what are the tests that need to be done to rule out the various non-genetic factors and identify if the cause may be due to genetic factor. If genetic factor is suspected then the geneticists will advise specific genetic test(s) to identify the type of genetic abnormality.

THALASSEMIA CLINIC

Guidance for a safe pregnancy for couples with affected with or carriers of thalassemia.

The thalassemia are inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Heterozygotes (i.e., carriers) may be slightly anaemic but are clinically asymptomatic. Carriers are often referred to as having thalassemia minor (or β-thalassemia minor). Carrier testing for individuals at risk (including family members, gamete donors, and members of at-risk ethnic groups) is possible. Once both HBB pathogenic variants have been identified in a couple at risk, prenatal testing and pre-implantation genetic diagnosis are possible.

Prental screening can help identify if your fetus has a risk of carrying a genetic disease

Prenatal screening offers couples a chance to screen their developing fetus for any fetal abnormality. Prenatal testing is non invasive testing procedure and involves USG and blood tests. To know more feel free to book a consult with me.

Identifying a genetic cause for infertility can help you choose the right treatment plan for conception.

Genetic changes are frequent causes of fertility problems. Genetic counseling combined with chromosome analysis is indicated in infertile or subfertile couples. In case of a normal karyotype, molecular diagnostics can be performed owing to the clinical picture. Premature ovarian failure might be caused by premutations in the FMR1 gene, while polycystic ovaries combined with other symptoms of lateonset AGS result from mutations in the CYP21A2 gene. In azoospermic or oligospermic men without chromosomal abnormalities, analyses of the CFTR gene and the AZF region are indicated.
The diagnostic measures in couples that are involuntarily childless are usually initiated by the gynecologist, andrological urologist, the dermatologist or the human geneticist. Therapy is predominantly performed at specialized centers of assisted reproduction, as in 50% of cases, medical treatment of childlessness results in assisted reproduction.

 
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Recurrent Pregnancy Loss

Explore if a genetic factor is causing your pregnancy loss

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Thalassemia Screening

Guidance for a safe pregnancy for couples with affected with or carriers of thalassemia.

Prenatal Screening

Prenatal screening can help identify if your fetus has a risk of carrying a genetic disease