Condition Lookup
Category:
Prenatal and Reproductive Genetics
Number of Conditions: 6
Neural tube defects (e.g., spina bifida, anencephaly)
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
abnormal spinal cord or brain development; open spinal cord (spina bifida); absence of major portions of the brain (anencephaly); paralysis; difficulty walking; hydrocephalus (fluid on the brain); bowel or bladder dysfunction in spina bifida
Root Cause:
Failure of the neural tube to close completely during embryonic development, typically occurring in the first month of pregnancy.
How it's Diagnosed: videos
Prenatal ultrasound, maternal blood tests measuring alpha-fetoprotein (AFP), and amniocentesis for diagnostic confirmation.
Treatment:
Prenatal surgery (for spina bifida), postnatal surgery to close defects, management of complications such as hydrocephalus, physical therapy, and assistive devices for mobility.
Medications:
Folic acid supplements are used preventively; for symptom management, antibiotics (to prevent infections) and medications for bladder or bowel dysfunction may be prescribed.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 1,000 live births worldwide, with variations depending on geographic and socioeconomic factors.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Folic acid deficiency, maternal diabetes, obesity, certain medications (e.g., antiepileptic drugs), and family history of neural tube defects.
Prognosis:
The expected outcome or course of the condition over time.
Dependent on severity; anencephaly is not compatible with life, while spina bifida outcomes vary from mild impairment to significant disability.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hydrocephalus, infections, mobility limitations, bowel and bladder dysfunction, and lifelong disability in severe cases.
Congenital Diaphragmatic Hernia
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
respiratory distress after birth; pulmonary hypoplasia (underdeveloped lungs); scaphoid abdomen; cyanosis (bluish skin due to lack of oxygen); bowel sounds in the chest
Root Cause:
Defect in the diaphragm allowing abdominal organs to migrate into the chest cavity, restricting lung development.
How it's Diagnosed: videos
Prenatal ultrasound showing abnormal organ placement, fetal MRI for detailed anatomy, or postnatal imaging such as chest X-rays.
Treatment:
Surgical repair after birth, often preceded by stabilization with mechanical ventilation or extracorporeal membrane oxygenation (ECMO). Prenatal interventions (e.g., fetoscopic tracheal occlusion) are experimental.
Medications:
Surfactant therapy to improve lung function, nitric oxide to manage pulmonary hypertension, and sedatives for mechanical ventilation.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,500 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic syndromes, chromosomal abnormalities, maternal smoking, and exposure to environmental toxins during pregnancy.
Prognosis:
The expected outcome or course of the condition over time.
Dependent on severity and associated anomalies; survival rates are approximately 60–80% with modern interventions.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic lung disease, pulmonary hypertension, feeding difficulties, and developmental delays.
Fetal Alcohol Syndrome
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Prenatal Conditions
Symptoms:
facial abnormalities (e.g., smooth philtrum, thin upper lip); growth deficiencies; developmental delays; intellectual disabilities; behavioral problems; poor coordination; vision or hearing problems
Root Cause:
Prenatal exposure to alcohol, which interferes with fetal brain and organ development.
How it's Diagnosed: videos
Clinical evaluation of facial features, growth measurements, developmental assessments, and maternal history of alcohol consumption during pregnancy.
Treatment:
Symptom management through special education services, behavioral therapies, and medical management for associated conditions (e.g., ADHD, sensory deficits).
Medications:
Psychostimulants (e.g., methylphenidate ) for ADHD symptoms, antidepressants (e.g., fluoxetine ) for mood disorders, and antipsychotics (e.g., risperidone ) for behavioral problems.
Prevalence:
How common the health condition is within a specific population.
Estimated at 0.2–1.5 per 1,000 live births in developed countries.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Maternal alcohol use during pregnancy, especially binge drinking or chronic alcohol consumption.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong condition with challenges in learning, social interactions, and independence, but early interventions can improve quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Learning disabilities, behavioral problems, difficulty with independent living, mental health disorders, and social difficulties.
Infertility-related genetic conditions
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
difficulty conceiving; recurrent pregnancy loss; abnormal sperm parameters; failure to achieve pregnancy despite regular unprotected intercourse
Root Cause:
Genetic abnormalities such as chromosomal translocations, gene mutations, or microdeletions affecting reproductive function or gamete viability.
How it's Diagnosed: videos
Genetic testing (karyotyping, chromosomal microarray analysis, and specific gene testing), reproductive history evaluation, and fertility assessments.
Treatment:
Assisted reproductive technologies (ART) like IVF with preimplantation genetic testing, donor gametes, and hormonal therapies.
Medications:
Hormonal treatments, such as clomiphene citrate (a selective estrogen receptor modulator) to induce ovulation, or gonadotropins (FSH, LH) for controlled ovarian stimulation. Progesterone supplements are used to support implantation and pregnancy.
Prevalence:
How common the health condition is within a specific population.
Approximately 10–15% of couples worldwide experience infertility, with genetic factors contributing to 10–30% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of infertility, advanced maternal or paternal age, exposure to environmental toxins, and previous medical or genetic conditions.
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on the specific genetic cause; many cases can be managed with assisted reproductive technologies or genetic counseling.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional distress, financial burden, and increased risk of genetic conditions in offspring without proper testing.
Recurrent pregnancy loss due to chromosomal abnormalities
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
multiple miscarriages (usually three or more); early pregnancy losses; difficulty carrying a pregnancy to term
Root Cause:
Chromosomal abnormalities such as balanced translocations, inversions, or aneuploidy affecting embryo viability.
How it's Diagnosed: videos
Parental karyotyping, chromosomal analysis of miscarriage tissue, and genetic counseling.
Treatment:
IVF with preimplantation genetic testing (PGT) to select chromosomally normal embryos, use of donor gametes, or specialized fertility treatments.
Medications:
Progesterone supplements to support pregnancy, aspirin or heparin in cases of antiphospholipid syndrome (not directly genetic), and folic acid to reduce neural tube defect risk.
Prevalence:
How common the health condition is within a specific population.
Chromosomal abnormalities account for about 50–60% of first-trimester miscarriages; recurrent pregnancy loss affects about 1–2% of couples.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced maternal or paternal age, prior history of pregnancy loss, family history of genetic disorders, and chromosomal rearrangements.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate interventions like PGT, many couples achieve successful pregnancies. Prognosis varies with the nature of chromosomal abnormality.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional stress, higher risk of further miscarriages, and potential challenges in ART outcomes.
Non-obstructive azoospermia (genetic causes)
Specialty: Genetics
Category: Prenatal and Reproductive Genetics
Sub-category: Reproductive Genetics
Symptoms:
absence of sperm in semen analysis; infertility; possible hormonal imbalances; small or undescended testes
Root Cause:
Genetic abnormalities such as Y-chromosome microdeletions, Klinefelter syndrome (47,XXY), or other mutations affecting spermatogenesis.
How it's Diagnosed: videos
Semen analysis, hormonal testing (FSH, LH, testosterone), genetic testing (karyotyping, Y-chromosome microdeletion testing), and testicular biopsy.
Treatment:
Testicular sperm extraction (TESE) with ICSI, hormonal therapy to improve spermatogenesis, or use of donor sperm.
Medications:
Hormonal treatments such as human chorionic gonadotropin (hCG) or follicle-stimulating hormone (FSH) to stimulate sperm production in some cases. Antioxidants like coenzyme Q10 may be recommended to support fertility.
Prevalence:
How common the health condition is within a specific population.
Non-obstructive azoospermia affects about 1% of men and 10–15% of infertile men, with genetic causes accounting for 10–20% of cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of infertility, history of testicular trauma or infection, exposure to environmental toxins, and chromosomal abnormalities.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis depends on the genetic cause; success rates are higher with ART like TESE-ICSI when viable sperm are present.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Emotional and psychological distress, challenges in achieving genetic parenthood, and increased risk of genetic abnormalities in offspring.