Presentation on theme: "Genetics in the NICU Approach to the Infant with Birth Defects"— Presentation transcript:
1 Genetics in the NICU Approach to the Infant with Birth Defects Robert Wallerstein, MDDirector, South Bay Regional Genetics CenterSanta Clara Valley Medical Center
2 Birth defects are defined as abnormalities of structure or function, that are present at birth. Major birth defects are abnormalities that lead to developmental or physical disabilities or require medical or surgical treatment.
3 There are more than 7,000 different known birth defects, ranging from minor to serious, and although many can be treated or cured, they're the leading cause of death in the first year of life.The most common type of major structural defects are heart defects, which affect 1 in 150 babies in the United States.Other common structural defects include spina bifida, cleft palate, clubfoot, and congenital dislocated hip.
4 According to the March of Dimes, about 150,000 babies are born with birth defects each year in the United States.The American College of Obstetricians and Gynecologists (ACOG) says that 3 out of every 100 babies born in the United States have some kind of major birth defect.Birth defects can be caused by genetic, environmental, or unknown factors. For most birth defects, the cause is believed to be an interaction of a number of genetic and environmental factors.
5 CausesMost babies with birth defects are born to two parents with no obvious health problems or risk factors.A woman can do everything her doctor recommends to deliver a healthy child and still have a baby with a birth defect.In fact, according to the March of Dimes, about 60% of birth defects have unknown causes. The rest are caused by environmental or genetic factors, or some combination of the two.
6 Worldwide Birth Defects 7.9 million children6% of total births3.3 million children under age of 5 die from birth defects annually3.2 million survivors may be diables for life
7 Worldwide status 94% of serious birth defects 95% of birth defect related deathsOccur in middle and low income countries due to:Differences in maternal healthConsanguinitynutrition
9 In the United States, fortification of food supply with folic acid: Has resulted in a 1/3 decline of neural tube defects$400 million dollars saved annually in healthcare costs
10 Evaluation 9 criteria for genetics referral Johns Hopkins Hospital 1. Known or suspected hereditary disorder2. Major physical anomalies, unusual body proportion, short statire or dysmorphic features3. Major organ involvement4. Developmental delay5. Complete or partial blindness or hearing loss
11 Evaluation 9 criteria for genetics referral Johns Hopkins Hospital 6. Deterioration of skills in a previously thriving child7. Maternal exposure to drugs, alcohol or radiation during pregnancy8. Strong family history of cancer (not in NICU)9. Failure to thrive
14 History Family History 3 generation pedigree For each family member-age, sex, medical status or cause of deathSpecifically ask about family history of neonatal or childhood death, mental retardation, developmental delay, birth defects, seizures, known genetic disorders, ethnicity, consanguinity, infertility, miscarriages, and stillbirths
15 Dysmorphology Examination a quick guide EyesHypotelorism and hypertelorismPhiltrumLong, short, or flatEarsEar pitsor tagsLow set or posteriorly rotated
16 Jaw Hands and Feet micrognathia retrognathia Abnormal hand creases 5th finger clinodactylySyndactylyPolydactyly
17 Bone lengths Rhizomelic shortening Proportionate dwarfism Upper:lower segment
18 Classification Definitions Syndrome-a set of symptoms occurring together from a single causeMalformation-a deformity in the shape or structure of a partDeformation -a major difference in the shape of body part caused by an outside force
22 Indication for chromosome studies Two majororone major and two minor malformations(include small for gestational age and developmental delay as major)Features of a specific chromosome syndromeAt risk for a familial chromosome aberrationAmbiguous genitalia
23 Trisomy 21Incidence 1:660Features: Presence of 6 of 10 cardinal featuresHypotoniaPoor Moro reflexHyperextensibilityExcess skin on the back of the neckFlat faciesSlanted palpebral fissuresAnomalous auriclesPelvic dysplasiaDysplasia of midphalanx of 5th fingerSingle transverse palmar crease
24 Trisomy 21 Natural history: Cardiac defects 50% GI atresias 12% Mental retardation 100%Leukemia 1%Thyroid disease 15%Hearing loss 75%Serous otitis media 50-70%Eye disease 60%
25 Trisomy 18 Incidence: 1:3,000 with 3:1 female preponderance Features:clenched hand with index finger overlapping third and fifth fuinger overlapping fourth, IUGR, decreased fetal activity,low-arch dermal ridge pattern, inguinal or umbilical hernia, cardiac defects, prominent occiput, low set ears, micrognathia, rocker bottom feet
26 Trisomy 18 Natural history: Apnea Severe failure to thrive 50% die by one week90% by 1 yearProfound mental retardationin survivors