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Couple declined all early screening in two pregnancies, because they would not consider terminating an affected pregnancy, but did have 20-week anomaly scans. Currently pregnant.
Normal first pregnancy; some early scanning after bleeding in first trimester. Screening includes nuchal translucency scan and blood testing.
Healthy pregnancy after an early miscarriage. Interviewee has a brother with severe learning disabilities and describes having genetic screening and counselling in early pregnancy.
Third pregnancy, after two miscarriages. Nuchal translucency scan suggested problems; CVS ruled out Down's syndrome but heart problems identified by further scan. Baby born March 2003, successful surgery completed.
Routine screening experiences. Healthy baby born 2002.
Problems detected at 20-week scan. Amniocentesis confirmed Patau's syndrome. Couple decided to proceed with pregnancy. Baby born at 35 weeks and died after 3 minutes.
Combined nuchal scan/blood test suggested high risk; early results ruled out trisomies but subsequently diagnosed a severe form of Turner's syndrome. Couple decided to end the pregnancy; now pregnant again.
Problems detected in first pregnancy at nuchal scan - confirmed as Down's syndrome by CVS. Couple decided to end the pregnancy. Subsequent normal pregnancy and birth.
Hydrocephalus detected by 20-week scan and amniocentesis in first pregnancy. Felt the decision to end the pregnancy was rushed. Miscarriage and two healthy pregnancies since.
Hypoplastic left heart suspected at 19-week scan, confirmed by cardiac scan. Couple decided to end the pregnancy. Chose amniocentesis in next pregnancy (baby born 2002).
Down's syndrome detected by amniocentesis in first pregnancy. Couple decided to end the pregnancy. Baby son born since.
Combined nuchal scan/blood test suggested high risk; early results ruled out trisomies but subsequently diagnosed a severe form of Turner's syndrome. Couple decided to end the pregnancy; now pregnant again.
Third pregnancy, after two miscarriages. Nuchal translucency scan suggested problems; CVS ruled out Down's syndrome but heart problems identified by further scan. Baby born March 2003, successful surgery completed.
Problems detected at 20-week scan. Amniocentesis confirmed Patau's syndrome. Couple decided to proceed with pregnancy. Baby born at 35 weeks and died after 3 minutes.
Problems detected in first pregnancy at nuchal scan - confirmed as Down's syndrome by CVS. Couple decided to end the pregnancy. Subsequent normal pregnancy and birth.
Combined nuchal scan/blood test suggested high risk; early results ruled out trisomies but subsequently diagnosed a severe form of Turner's syndrome. Couple decided to end the pregnancy; now pregnant again.
After four miscarriages, scan in fifth pregnancy found heart defects. Couple decided to continue the pregnancy. Son, now 4, has had some additional problems. Pregnant at time of interview.
Their son was diagnosed with Hypoplastic Left Ventricle, VSD, Mitral Atresia, Pulmonary Atresia, Right Atrial Isomerism, aorta arising from the right ventricle, TAPVD and Bilateral Superior Vena Cava and no spleen. Treatment: modified BT shunt (6 days old) open heart surgery (3 months and 6 months), 1st stage Fontan (10 months). Further surgery planned. Current medication: Warfarin, Enanapril, Frusemide, Penicillin. More of this interview can be seen on the DIPEX Congenital Heart Disease site as interview CHD07.
Their daughter was diagnosed with Hypoplastic Right Heart Syndrome, Tricuspid Valve, Coarctation of the Aorta, Transposition of the Great Arteries. Treatment: A banding operation at 22 hrs old, repeated at 1 week old. A cardiac catheter at 10 months and a CP shunt at 1 yr. Further palliative operations planned. Current Medication: Phenoxybenzamine Hydrochloride. More of this interview can be seen on the DIPEX Congenital Heart Disease site as interview CHD06.
Hypoplastic left heart diagnosed after scan and amniocentesis at 25 weeks in second pregnancy. Decided to continue with the pregnancy. Son is now 2.
Their son was diagnosed with Tricuspid Atresia, a large VSD, ASD, small right ventricle & small pulmonary artery. Treatment: Modified BT Shunt & Atrial Septostomy at 24 hrs old. Cardiac catheters & further operations planned when their child is older. Current Medication: diuretics, aspirin, sytron, anti-reflux and lactulose. More of this interview can be seen on the DIPEX Congenital Heart Disease site as interview CHD03.
Problems detected at 20-week scan. Amniocentesis confirmed Patau's syndrome. Couple decided to proceed with pregnancy. Baby born at 35 weeks and died after 3 minutes.
Their daughter was diagnosed with ostium primum Atrial Septal Defect (ASD). Treatment: Surgery at 18 months old to close the hole with a dacron patch. Stitches in the mitral valve. No further surgery planned. Current medication: none. More of this interview can be seen on the DIPEX Congenital Heart Disease site as interview CHD12.
Third pregnancy, after two miscarriages. Nuchal scan suggested problems; CVS ruled out Down's syndrome but heart problems identified by further scan. Baby born March 2003, successful surgery completed.
After four miscarriages, scan in fifth pregnancy found heart defects. Couple decided to continue the pregnancy. Son, now 4, has had some additional problems. Pregnant at time of interview.
Problems detected in first pregnancy at routine 12 week dating scan - confirmed as Edward's syndrome by CVS. Couple decided to end the pregnancy. Now pregnant again.
Down's syndrome detected by amniocentesis in first pregnancy. Couple decided to end the pregnancy. Baby son born since.
Problems detected in first pregnancy at routine 12 week dating scan - confirmed as Edward's syndrome by CVS. Couple decided to end the pregnancy. Now pregnant again.
Hydrocephalus detected by 20-week scan and amniocentesis in first pregnancy. Felt the decision to end the pregnancy was rushed. Miscarriage and two healthy pregnancies since.
Down's syndrome detected by amniocentesis in first pregnancy. Couple decided to end the pregnancy. Baby son born since.
Second child born with Down's syndrome after low risk nuchal scan results, and no problems detected at 20-week scan. Home birth. Daughter now aged two.
Second child born with Down's syndrome after low risk nuchal scan results, and no problems detected at 20-week scan. Home birth. Daughter now aged two.
Baby born in April 2002 with hydrocephalus which had not been picked up during screening. Baby has had surgery and is making good progress.
Daughter born November 2000 with congenital heart problems not detected by antenatal screening, diagnosed when the baby was 10 weeks old. Corrective surgery at 11 months and 2 years.
Second child born with Down's syndrome after low risk nuchal scan results, and no problems detected at 20-week scan. Home birth. Daughter now aged two.
Second child born with Down's syndrome after low risk nuchal scan results, and no problems detected at 20-week scan. Home birth. Daughter now aged two.
Daughter born November 2000 with congenital heart problems not detected by antenatal screening, diagnosed when the baby was 10 weeks old. Corrective surgery at 11 months and 2 years.
Their daughter was diagnosed with pulmonary atresia, VSD & an overiding aorta. Treatment: closed heart surgery (shunt) at 11 days old, closed heart surgery (shunt) at 11 months old. Corrective open heart surgery at 2½ yrs old. Current medication: none. More of this interview can be seen on the DIPEX Congenital Heart Disease site as interview CHD30.
Hypoplastic left heart suspected at 19-week scan, confirmed by cardiac scan. Couple decided to end the pregnancy. Chose amniocentesis in next pregnancy (baby born 2002).

Thoughts, discussions and info after diagnosis


Thoughts, discussions and info after diagnosis

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