| BROADLY THE GENETIC CAUSES OF FEMALE FACTOR INFERTILITY INCLUDE |
1 Advance Maternal Age
2 Structural abnormality of chromosomes
3 Classical Turner's syndrome
4 Mosaic Turner syndrome |
5Â Fragile x syndrome
6 Â Mullarian Agenesis
7 Â Congenital Adrenal Hyperplasia (CAH), presenting as
Polycystic ovary syndrome (PCOS) |
| In additional Genetic History is important for following reasons too !! |
- Review family history for genetic issues
- Carrier screening according to (ethnic background):
Sickle cell aneamia , thalassemia , Tay – sachs disease
- Carrier screening (family history)
Cystic fibrosis , non - syndromic hearing loss, fragile syndrome
|
| WHAT ARE THE REPRODUCTIVE IMPAIRMENT FOR WOMEN WITH GENETIC CAUSE OF INFERTILITY? |
- Disorder that impair the development and functioning of female organs (e.g Mullerian anomalies, Testicular Feminization and Ambiguous genitalia) resulting in absence of or defective reproductive organs.
- Impaired Hormone production regulation that impairs Reproduction (e.g. Turner's syndrome ; Advance maternal age ; Premature ovarian failure) or
|
| Genetic disorder , in which pregnancy many lead to Abortion or Recurrent Abortions and / or affect the health of the embryo or infant due to the transmission of the genetic disorder to the offspring |
| WHAT ARE THE FAMILY BUILDING OPTIONS ? : |
In the Past women with genetic condition and / or cause for infertility (eg Turner's syndrome)
had no Family Building option except Adoption.
Recently, IVF / Surrogacy and Third – Party Reproduction - Parenthood can facilitate biological parenthood by enabling them to have a genetically related child.
It is pertinent to note that though IVF or Surrogacy enables a women to build a family , but they do not eliminate transmission of her genetic disorder or age related genetic issues to the neonate. Now PGD can be helpful for identifying genetically normal embryo and selecting unaffected embryos for Transfer to the genetic mother or a gestational carrier (surrogacy)
The PGD is thus God sent technology, now available in India & in Delhi which can reduce or eliminate the risk of transmitting their genetic disorder or a chromosomal anomaly to their offspring when combined with Assisted Reproductive Technolog |
| A. GENETIC CAUSES OF FEMALE INFERTILITY |
| ADVANCED PARENTAL AGE |
Family Building options |
- Maternal age: increased risk of chromosomal abnormality (Trisomy 13, 18, 21, 47XXY, 47XXX)
- Paternal age: increased risk of Autosomal dominant, X-linked recessive Ds
|
- If Repeated pregnancy loss – Donar eggs programme
|
B. Structural Abnormality of Chromosomes
- Women with chromosomal abnormalities which result in infertility, can be due to either structural rearrangements (i.e. translocations) or chromosomal aneuploidy.
- Women who carry Balanced Chromosome Translocation are predisposed to extremely early miscarriages, often before they are even aware of the pregnancy. Such pregnancy carry risk for first – trimester miscarriages or a pregnancy with multiple congenital anomalies.
- What are Family Building Option for her ?
IVF & ART techniques may help many women with genetic disorder become biological mother.However
the risk of transmission of the disorder to offspring remains an important consideration ,especially if the
women plan to use her own oocytes . so the best option is donor oocytes
|
| C. CLASSICAL TURNER'S SYNDROME |
- Turner syndrome is a the most common genetic cause of reproductive failure in women and associated with heart and kidney abnormalities , webbing of the neck , small stature, and primary amenorrhea.
- It is a chromosomal disorder marked by the absence of all or part of one of the two X chromosomes . In
most but not all cases, women with this condition have very early loss of all oocytes, so that at birth the
residual ovarian tissue is small (streak ovaries) and nonfunctional.
- Turner syndrome has reported to increase the risk of death due to aortic rupture or dissection during
pregnancy – an underlying condition that may be overlooked prior to pursuing assisted reproduction or
pregnancy = Screen your patients well.
|
What are Family Building Option for her :
Because the fallopian tubes , uterus cervix and vagina are formed independently from the
ovaries, pregnancy is a viable option for women with this condition as long as donor oocytes are used
successful cases are being done in ordinary IVF centers in India. |
| D. MOSAIC TURNER SYNDROME |
- Women with mosaic turner syndrome (45,X0 /46, XX) are often asymptiomatic and normal appearing and, as such , may present to an infertility clinic seeking services, unaware they have genetic disorder . women with Turner syndrome may occasionally conceive , although there is a risk of transmitting the disorder or chromosomal disorder to their offspring
- What are Family Building Option for her :
Motherhood is best achieved through IVF using donated oocytes as it prevents the
transmission of the genetic disorder to any offspring
|
| D. Fragile X Syndrome |
Family Building options |
Women are carriers for fragile X syndrome
- Family History of fragile X syndrome
- Family History mental Retardation in
|
- IVF with donated occytes
- IVF / PGD to select only female embryos for transfer t
- avoid the transmission of fragile syndrome in males |
F. Mullarian Agenesis
One example is Rokitansky - Kuster – hauser syndrome . This syndrome is a congenital defect of the female reproductive tract in which the ovaries are normal but the uterus, cervix ,and most of the vagina are abnormal or absent. |
1. What are Family Building Option for her :
Because theyhave normal functioning ovaries , women with Rokitansky - Kuster - Hauser Syndrome may achieve paranthood through the fertilization of their own oocytes via IVF and the assistance of a gestational carrier who bear the pregnancy |
| G. Problem Congenital adrenal hyperplasia (CAH) presenting as Polycystic ovary syndrome (PCOS) |
1. Conginital adrenal hyperplasia , or CAH , is an autosomal recessive genetic disorder that causes defects in the enzymes of the adrenal corex required for cortisol production. The clinical severity of CAH has a large range , and typically women with the nonclassical form of CAH and polycystic ovarian present with premature puberty, hirsutism, and severe cystic acne.
2. However women with nonclassical CAH can be at risk of having a child with a more severe form of CAH involving the inability to metabolize salt and ambiguous genitalia carrier screening for the women's partner should be made available to assess recurrence risk implications |
3. What are Family Building Option for her :
Typically women with PCOS are treated with ovulation – stimulation hormones that may or not involve IVF . |
Conclusion
It is most that Genetic Counseling should address the risk of transmission to any offspring.
Additionally , these women also have ongoing health concern and issues apart from their reproductive goals which should be addressed too . Life care IVF is the only centre doing genetic Counseling in our IVF Centre |
