Developmental/Genetic Disorders

The authors’ comments on the use of melatonin to treat insomnia in children were very helpful as well.

Four-year-old boy born at 35 weeks’ gestation to a gravida 2, para 1, 23-year-old mother via emergency cesarean delivery because of fetal distress. Birth weight, 1670 g (3 lb 11 oz). Apgar scores, 8 and 9 at 1 minute and 5 minutes, respectively. At birth, child found to have supravalvular aortic stenosis, peripheral pulmonary stenosis, and ventricular septal defect. Gastroesophageal reflux, laryngomalacia, bilateral inguinal hernias, hypothyroidism, hypercalcemia, growth retardation, and developmental delays noted at various times during the first 4 years of life. Family history, unremarkable.

A 1909-g (4.3-lb) boy born at 29 weeks' gestation to a 14-year-old gravida 1, para 0 mother via cesarean delivery because of fetal bradycardia. Results of antenatal screening were negative. Mother denied substance abuse. Prenatal ultrasonography showed bilateral hydronephrosis, dilated fetal bladder, bilateral clubbed feet, and polyhydramnios.

This 4-year-old girl was born to a 27-year-old gravida, 1 para 0 mother at 37 weeks' gestation via vaginal delivery. The pregnancy was uncomplicated. Apgar scores were 8 at 1 minute and 9 at 5 minutes. The child's birth weight, head circumference, and length were 3045 g, 33 cm, and 50 cm, respectively. Her mother noted global developmental delays (particularly in the areas of speech and fine motor skills), abnormal sleep habits, obstructive sleep apnea, and seizure disorder. Family history was unremarkable.

With genetic tests are rapidly entering medical practice, and some patients even ordering them on their own, the NIH has launched a Genetic Testing Registry to help doctors interpret and following up on these tests. In this interview, the director of the new Genetic Testing Registry tells why you need it, and what's there for your reference.

A consortium called CPIC has issued a new guideline on genetic tests that can mean the difference between toxic reactions or unrelieved pain for some patients on codeine. Dr. Mary Relling tells why primary care doctors need good information right now about the links between genes and drug response, and where you can find it.

Screening tests of maternal blood for fetal genetic disorders have proliferated. What is the current role of these tests in pregnancy planning?