hhh 14 16 weeks https www youtube comwat

hhh • 14 -16 weeks https: //www. youtube. com/wat ch? v=h 38 ysp. Y__Tg Mother's age of 35 years or greater Abnormal first trimester screen results Abnormal ultrasound Family history of a chromosomal abnormality or other genetic disorders 1/1600 miscarriages

Chorionic villi sampling 10 -13 weeks higher risk of harming the fetus (limb deformities) 1 in 150 miscarriages

Down Syndrome • flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. https: //www. facebook. com/newshour/video

Edwards Syndrome • Trisomy 18 • Severe mental retardation • Elongated skull, narrow pelvis, rocker bottom feet, grasping of central fingers by thumb and pinky • Ears low set, small mouth and teeth • Die in early infancy • 1/5000 births https: //www. youtube. com/watch? v=om. CTJt U 4 A 4 o https: //www. youtube. com/watch? v=UUQRl 8 BRMv. Q

Klinefelter Syndrome XXY *infertile https: //www. youtube. com/watch? v= f. MEh. Yio. I 34 E&t=17 s

Patau Syndrome • Trisomy 13 • Die in early infancy • Cleft palate and lip, broad nose, nonfunctional eyes, heart defects • Severe mental retardation • 1/5000 https: //www. youtube. com/watch? v=701 z 05 g. Sgc. A

Turner Syndrome Short stature, Webbed neck, drooping eyelids, abnormal bone development, such as a "shield-shaped", broad, flat chest, slow development of secondary sexual characteristics, infertility https: //www. youtube. com/watch? v=2 pct. D 5 Yxb. A

Metafemale (triple X) • • • XXX 1/1000 births No specific abnormalities Appear normal mentally & physically fertile

Cri du chat https: //www. youtube. com/watch? v=TYQrz. F Deletion on short arm. ABQHQ of chromosome #5 https: //www. youtube. com/watch? v=TYQrz. F ABQHQ • feeding problems because of difficulty swallowing and sucking. • low birth weight and poor growth. • severe cognitive, speech, and motor delays. • behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements. • unusual facial features which may change over time. • Excessive dribbling

*Most common inherited cause of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. • Mouths toys more than playing with them • no verbal communication • Takes firsts steps at an uncommonly late age • Delayed development • Has a very short attention span • Sensitivity to loud noises • Inability to control anger • Overemotional • Impulsiveness • Severe temper tantrums • Depression • Very slurred or broken speech Fragile X Syndrome

• Deletion of part of chromosome #7 • Features and Characteristics • Distinct facial characteristics – small upturned nose, long upper-lip length, wide mouth, full lips, small chin, and puffiness around the eyes – Children with blue or green eyes can have a white lacy pattern on their iris. • • • Heart and blood vessel problems Elevated calcium levels Low birth weight/ Low weight gain Feeding problems in infants and young children Irritability during infancy Dental abnormalities Kidney abnormalities Hernias Sensitive hearing Musculoskeletal problems Over-friendly personality, outgoing, sociable, and affectionate Developmental delay, learning disabilities, and attention deficit Williams syndrome

Alagille syndrome • liver damage jaundice, • itching, and deposits of cholesterol in the skin • congenital heart problems • unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray. • facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin.