Prenatal genetic counseling is available to couples who are pregnant, to discuss risks to the pregnancy as well as testing options. Common reasons to seek prenatal genetic counseling include:

• A woman who is (or will be) 35 years or older at delivery (singleton pregnancy), or 33 years or older at delivery (twin gestation)
• A man who is (or will be) 40 years or older at delivery of his child
• Both partners are blood relatives, or from the same community
• An “abnormal” first or second trimester maternal serum and/or nuchal translucency screening test
• A fetal anomaly or multiple anomalies identified on ultrasound
• Prior to CV, amiocentesis or NIPT (non-invasive prenatal screening test)
• Personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy
• A positive carrier screening test for a genetic condition such as thalassemia, sickle cell anemia, cystic fibrosis, Tay-Sachs, etc.
• Either member of the couple with personal or family history of a known genetic condition, chromosomal abnormality (such as translocation, marker chromosome, mosaicism, etc.), cleft lip/palate, mental retardation, autism, hearing/vision loss, etc.

Preconceptual genetic counseling is available to couples who are planning a pregnancy, to discuss risks to a future pregnancy as well as available testing options. Common reasons to seek preconceptual genetic counseling are:

• A woman who is (or will be) 35 years or older at delivery (singleton pregnancy), or 33 years or older at delivery (twin gestation)
• A man who is (or will be) 40 years or older at delivery of his child
• Both partners are blood relatives, or from the same community, to discuss carrier screening
• Personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy
• A positive carrier screening test for a genetic condition such as thalassemia, sickle cell anemia, cystic fibrosis, Tay-Sachs, etc.
• Either member of the couple with personal or family history of a known genetic condition, chromosomal abnormality (such as translocation, marker chromosome, mosaicism, etc.), cleft lip/palate, mental retardation, autism, hearing/vision loss, etc.

A referral to genetics/genetic counseling is extremely crucial for newborns or children suspected to have a genetic condition. A genetic condition may be suspected because of clinical symptoms, birth defects, or developmental delays. The aim of genetic counseling in pediatrics is dual:

• To establish a genetic diagnosis that will inform overall prognosis, treatment, and/or health care management
• To provide information about recurrence risks and testing options to the parents for a future pregnancy
• Some important indications for pediatric genetic assessment/counseling are listed below. Please feel free to call us at 1800-102-4595 if you have concerns about your child/patient that you would like to discuss with our genetic counselors.
  • Congenital hypotonia/hypertonia
  • Unexplained intrauterine growth retardation
  • A single major anomaly or multiple minor anomalies
  • Dysmorphic features, especially if accompanied by developmental delays or mental retardation
  • Known or suspected metabolic disorder (intractable seizures, hepatosplenomegaly, acidosis, cyclic vomiting, persistent hypoglycemia, developmental regression, and unusual body odor)
  • An unusual growth pattern such as overgrowth, short stature, or hemihypertrophy
  • Evidence of a connective tissue disorder such as extreme joint laxity, poor wound healing, or a marfanoid habitus
  • Congenital eye defects or blindness associated with problems such as microophthalmia, cataracts, megalocornea, retinitis pigmentosa, or conerod dystrophy
  • Significant hearing loss or deafness not secondary to recurrent otitis media
  • Six or more cafe´-au-lait macules 0.5 cm in diameter
  • Bilateral or multifocal malignancies such as retinoblastoma or Wilms tumor
  • Problems with clotting including disorders such as hemophilia and thrombophilia
  • A recognized or suspected genetic syndrome including a chromosomal or single gene disorder
  • Progressive muscle weakness that might be associated with a genetic disorder such as a form of muscular dystrophy, spinal muscular atrophy, or myotonic dystrophy
  • Unexplained mental retardation or global developmental disorder
  • Autism or pervasive developmental disorder

Some important indications for pediatric genetic assessment/counseling are listed below. Please feel free to call us at 1800-102-4595 if you have concerns about your child/patient that you would like to discuss with our genetic counselors.

• Tall/short stature as compared to genetic background
• Abnormal sexual maturation or delayed puberty
• Six or more cafe´-au-lait macules 1.5 cm in diameter
• One or more birth defects
• Statin-induced myopathy
• Personal or family history of:
  • A cancer or cancers known to be associated with specific genes or mutations such as breast, ovarian, and colorectal in the context of a compelling family history; young age at onset, bilateral lesions, and familial clustering of related tumors
  • Cardiovascular problems known to be associated with genetic factors such as cardiomyopathy, long QT, hyperlipidemia, etc.
  • Hematologic condition associated with excessive bleeding or excessive clotting (as evidenced by recurrent deep vein thromboses or pulmonary emboli)
  • Progressive neurologic condition known to be genomitically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, and a familial movement disorder
  • Visual loss known to be associated with genetic factors such as retinitis pigmentosa, early-onset macular degeneration, and cataracts
  • Early onset hearing loss
  • Mental illness such as schizophrenia, depression, bipolar disorder, etc
  • A close relative with sudden, unexplained death, particularly at a young age
  • Recognized genetic disorder including a chromosomal or single gene disorder