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The Female Infertility Panel

¿WHAT IS FEMALE INFERTILITY PANEL?

The Female Infertility Panel is a comprehensive next-generation sequencing (NGS).

panel that analyzes genes associated with increased risks for female infertility, including primary ovarian insufficiency, polycystic ovary.

1Primary Ovarian Insufficiency/Ovarian Dysfunction.
2Polycystic Ovary Syndrome.
3Ovarian Hyperstimulation Syndrome.
4Sex Chromosome Aneuploidy.
5Thrombophilia-Related Recurrent Pregnancy Loss.

PRIMARY OVARIAN INSUFFICIENCY/OVARIAN DYSFUNCTION

Primary ovarian insufficiency (POI) occurs when the ovaries cease to function appropriately prior to the age of 40 years.

POI is a common condition, affecting approximately 1% of women, and typically includes depletion of ovarian follicles and a cessation of normal menstruation.

Approximately 5–10% of women with primary ovarian insufficiency experience spontaneous conception and delivery indicating varying and unpredictable ovarian function.

Treatment for this condition may include hormone or fertility treatment, or early intervention, including oocyte storage, to preserve fertility.

INCLUDED DISORERS:
Aromatase Deficiency, Primary Ovarian Insufficiency, Pseudohypoparathyroidism, Hypogonadotropic hypogonadism, FMR1-Related Disorders, Leydig Cell Hypoplasia, Galactosemia, Oocyte Maturation Defect

INHERITANCE:
Disorders that cause primary ovarian insufficiency and ovarian dysfunction are inherited in autosomal dominant, autosomal recessive, and X-linked fashions.

INCLUDED GENE(S) (17):
BMP15 - CYP19A1 - FOXL2 - FSHR - GDF9 - GNRHR - LHCGR - NR5A1 - ZP1 - CYP17A1 - FMR1 - FSHB - GALT - GNAS - KISS1R - NOBOX - STAG3

EMERGING EVIDENCE GENE(S) (8):
EIF2B2 - EIF2B3 - FIGLA - LHB - POF1B - POLG - PSMC3IP - WT1

POLYCYSTIC OVARY SYNDROME

Polycystic ovary syndrome (PCOS) is characterized by high androgen levels, lack of ovulation, and ovarian cysts.

Women may have irregular or absent menstrual periods, excess body and facial hair, acne, obesity, and decreased fertility, including anovulation.

PCOS is a common disorder, a ecting 5%-10% of women between the ages of 15-44. The symptoms of PCOS are highly variable, and increase a woman’s risk for a variety of other health conditions.

Although PCOS does not have a cure, it is frequently treatable. Treatments may include lifestyle modification including weight loss, medications for regulating menstrual cycles, inducing ovulation and reducing excessive hair growth, as well as surgery.

INCLUDED DISORERS:
Polycystic Ovary Syndrome (PCOS).

INHERITANCE:
Polycystic ovary syndrome is typically inherited in a multifactorial manner, meaning that both genetic and environmental factors play a role in the development of this disease. The genes included in this panel are associated with increased risks for developing polycystic ovary syndrome.

INCLUDED GENE(S) (7):
CAPN10 - CYP11A1 - DENND1A - FSHR - GDF9 - LHCGR - THADA

EMERGING EVIDENCE GENE(S) (8):
CYP17A1 - INS - IRS1 - KISS1 - GNRH1 - INSR - IRS2 - TACR3

OVARIAN HYPERSTIMULATION SYNDROME

Ovarian hyperstimulation syndrome (OHSS) typically occurs as a side effect in 3-6% of women who are taking follicle stimulating drugs during the course of IVF treatment.

OHSS can cause abdominal discomfort, nausea, vomiting, and diarrhea due to enlarged polycystic ovaries, and in severe cases can lead to rupture and hemorrhaging of ovarian cysts, which can lead to organ failure and death.

OHSS can occur spontaneously during pregnancy in women who are not undergoing fertility treatment. Genetic factors can influence the severity of symptoms in women who develop OHSS during IVF treatment.

INCLUDED DISORERS:
Ovarian Hyperstimulation Syndrome (OHSS).

INHERITANCE:
Spontaneous ovarian hyperstimulation syndrome is inherited in an autosomal dominant manner.

Ovarian hyperstimulation syndrome typically occurs as an iatrogenic complication related to in vitro fertilization and is influenced by genetic and environmental factors.

INCLUDED GENE(S) (7):
FSHR

SEX CHROMOSOME ANEUPLOIDY

Sex chromosome aneuploidy is the presence of an abnormal number of sex chromosomes.

Male individuals typically have 46 chromosomes, including one X chromosome and one Y chromosome, while females typically have 46 chromosomes, including two X chromosomes.

The most common sex chromosome abnormality in females leading to infertility is Turner syndrome, which occurs in 1 in 2,500 females.

Females with Turner syndrome typically have short stature, cardiac abnormalities, and ovarian insufficiency.

Approximately 2-5% of individuals with Turner syndrome may become pregnant spontaneously, although many women may become pregnant through the use of assisted reproductive technologies (ART).

INCLUDED DISORERS:
Turner Syndrome, other sex chromosome abnormalities

INHERITANCE:
Sex chromosome aneuploidies are typically not inherited but rather occur as random errors that occur during cell division in the formation of sperm and egg cells in a parent.

ASSAYED REGIONS:
X and Y chromosomes.

THROMBOPHILIA-RELATED RECURRENT PREGNANCY LOSS

Inherited thrombophilia is a genetic predisposition to blood clotting that is caused by abnormalities in the blood clotting cascade.

The most common manifestation of inherited thrombophilia is venous thromboembolism (VTE). Risks for VTE is increased by smoking, obesity, age, oral contraceptive and hormone replacement therapy, air travel, pregnancy, and surgery.

Individuals with hereditary thrombophilia may be at increased risk for recurrent pregnancy loss, which is the highest during the second and third trimester.Individuals with an inherited thrombophilia have been shown to have a 2 to 3 fold increased risk for a late miscarriage versus una ected individuals

INCLUDED DISORERS:
Factor V Leiden Thrombophilia, Prothrombin-Related Thrombophilia, Protein C Related Thrombophilia, Protein S Related Thrombophilia.

INHERITANCE:
Thrombophilia is typically inherited in an autosomal dominant fashion, with homozygous or compound heterozygous individuals frequently demonstrating a more severe phenotype than heterozygous individuals.

INCLUDED GENE(S) (5):
F2 - F5 - PROC - PROS1 - SERPINC1

EMERGING EVIDENCE GENE(S) (33):
ACE - F12 - F7 - GP1BA - ITGB3 - PLAT - SERPINF1 - CBS - F13A1 - F8 - GP1BB - KLKB1 - PLAUR - TFPI - CPB2 - F13B - F9 - GP5 - MTHFR - PLG - THBD - F10 - F2R - FGA - GP9 - MTR - PROCR - F11 - F3 - FGB - ITGA2 - MTRR - SERPINE1