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Q: Birth Defects in Children Born to Women Over 40 ( Answered 5 out of 5 stars,   1 Comment )
Subject: Birth Defects in Children Born to Women Over 40
Category: Health > Conditions and Diseases
Asked by: sermonauthor-ga
List Price: $20.00
Posted: 14 Feb 2004 21:15 PST
Expires: 15 Mar 2004 21:15 PST
Question ID: 306902
I'm an author working a memoir about the experiences my wife and I
went  through as late-in-life parents. I was 46 and my wife 44 when we
had our youngest daughter who is almost 2. We were concerned about
having another child so late because we had heard, annecdotally, that
the chance for birth defects tends to rise with the age of the mother.

My questions, closely linked are: What are the chances--or odds--a 44
year old pregnant woman will give birth to a child with a birth
defect? At what age does this curve of defects in children born to
middle-aged mothers begin to sharply increase? In the last 10-20 years
what are, in order the 3-5 most common birth defects in children born
to women over 40?

One point of clairfication, my wife tells me it's important to make a
distinction between a woman who has already had children (which we
had) and a woman who is having her first.

My primary need is for information on women who have already had
children, but if  you find figures for first-time birth mothers as
well so I can do a comparison I would be happy for the extra info and
would be glad to include a tip at the end of our transaction.

My book is annecdotal, not medical. So I don't necessarily need a
study from the Harvard Medical School if you can find 
quotes, unsubstantiated by studies,  from respected physicians.

In other words, i'm looking for a general sense of this answer. If a
scientific answer is the one you find, that will be OK too.

Thanks in advance for you help!
Subject: Re: Birth Defects in Children Born to Women Over 40
Answered By: pinkfreud-ga on 14 Feb 2004 23:52 PST
Rated:5 out of 5 stars
Figures on this vary somewhat, for several reasons: there is no
absolute consensus on precisely what is to be considered a birth
defect; some kinds of birth defects are not discovered until long
after the birth (sometimes months or years later); there is no central
record-keeping agency for all children's health data (a fact which has
both positive and negative implications). Below I've gathered some
material that I believe will meet your needs. I've addressed your
three questions in the order asked.

What are the chances--or odds--a 44 year old pregnant woman will give
birth to a child with a birth defect?

A 40-year-old mother has approximately a 6% to 8% risk of giving birth
to a child with a birth defect. Since the likelihood of most types of
birth defects increases with maternal age, a 44-year-old woman could
be assumed to have a risk over 8%. A 44-year-old mother's risk of
bearing a child with some form of chromosomal abnormality is 1 in 24
(or about 4%). At age 45, the risk of having a child with Down
Syndrome is around 1 in 40 (and some statistics are as low as 1 in

Here are some figures from online sources:

"What is the risk of birth defects in babies of women over 35?
The risk of bearing a child with certain chromosomal disorders
increases as a woman ages. The most common of these disorders is Down
syndrome, a combination of mental retardation and physical
abnormalities caused by the presence of an extra chromosome 21 (humans
have 23 pairs of chromosomes). At age 25, a woman has about a
1-in-1,250 chance of having a baby with Down syndrome; at age 30, a
1-in-1,000 chance; at age 35, a 1-in-400 chance; at age 40, a 1-in-100
chance; and at 45, a 1-in-30 chance."

March of Dimes

"While the general population of childbearing women has a 3% chance of
delivering a child with a birth defect, after age 40 this risk rises
to between 6% and 8%. The likelihood of having a baby with Down's
syndrome is approximately 1 in 365 at the age of 35. This number
increases to 1 in 100 by the age of 40 and up to 1 in 40 at the age of

Somerset Medical Center

Here is a table which shows, year by year, the chance of having a
child with Down's Syndrome, and the chance of having a child with any
chromosomal abnormality:

Mother's                Chance of           Chance of Chromosomal
Age at Delivery         Down Syndrome       Abnormality

20                      1 in 1923           1 in 526
21                      1 in 1695           1 in 526
22                      1 in 1538           1 in 500
23                      1 in 1408           1 in 500
24                      1 in 1299           1 in 476
25                      1 in 1205           1 in 476
26                      1 in 1124           1 in 476
27                      1 in 1053           1 in 455
28                      1 in 990            1 in 435
29                      1 in 935            1 in 417
30                      1 in 885            1 in 384
31                      1 in 826            1 in 384
32                      1 in 725            1 in 322
33                      1 in 592            1 in 285
34                      1 in 465            1 in 243
35                      1 in 365            1 in 178
36                      1 in 287            1 in 149
37                      1 in 225            1 in 123
38                      1 in 177            1 in 105
39                      1 in 139            1 in 80
40                      1 in 109            1 in 63
41                      1 in 85             1 in 48
42                      1 in 67             1 in 39
43                      1 in 53             1 in 31
44                      1 in 41             1 in 24
45                      1 in 32             1 in 18
46                      1 in 25             1 in 15
47                      1 in 20             1 in 11
48                      1 in 16             1 in 8
49                      1 in 12             1 in 7


Dr. Wendy Cox

At what age does this curve of defects in children born to middle-aged
mothers begin to sharply increase?

Rather alarmingly, there is a noticeable increase in non-chromosomal
fetal malformations starting around age 25. At 35, there are markedly
increased risks, since chromosomal abnormalities (including Down
Syndrome) spike dramatically around this time in middle age. Another
big jump in instances of birth defects comes with mothers who are 40
and older.

"Researchers conducted this study to examine the effect of maternal
age on incidence of non-chromosomal fetal malformations. Malformations
detected at birth or in the newborn nursery were catalogued
prospectively for 102,728 pregnancies, including abortions,
stillbirths, and live births. Clearly chromosomal defects increase
with age and this was confirmed in the present study by karyotyping.
After excluding infants with chromosomal abnormalities, the incidence
of structurally malformed infants also increased significantly in
women > 25 years of age. The additional age-related risk of
non-chromosomal malformations was approximately 1% in women 35 years
of age or older. The odds ration for cardiac defects was 3.95 (about
times greater) in infants of women >40 years as compared to women
20-24 years of age. The risks of clubfoot and diaphragmatic hernia
also increased as maternal age increased. It was concluded that
advanced maternal age >25 years was associated with a significantly
increased risk of fetuses having congenital malformations not caused
by aneuploidy."

Center for Applied Reproductive Science Archives

"The risk of giving birth to a child with a birth defect does increase
as the mother's age increases. This is probably due to abnormal
division of the egg, called nondisjunction. The traditional age at
which a woman is considered to be at high risk for chromosomal
abnormalities is 35."

Cached copy from WebMD Health

"There are several fetal risks associated with advanced maternal age.
In a study of 379 mature prospective mothers, aged 35 years and older,
in comparison to a control group of 379 prospective mothers, ages 20
to 30, there were five stillbirths in the mature age group and none in
the younger age group (Barton, Bergauer, Jacques, Coleman, Stanziano,
& Sibai, 1997). Furthermore, there is a significant difference in
unexplained fetal death in pregnant women over the age of 35.
According to Fretts & Usher (1997), one in 440 fetal deaths were
unexplained in women 35 and older, whereas, one in 1000 fetal deaths
were unexplained in women younger than 35.

Chromosomal abnormalities in the fetus also increase with maternal
age. In a recent study, in the age group 35 and younger, 63.6 percent
(7 of 11) had normal fetal chromosome makeup; in the elder maternal
age group, 35 and older, only 22 percent (9 of 41) had a normal fetal
genetic makeup (Schmidt-Sarosi, 1998). The most prevalent chromosomal
anomalies are trisomy 21 (Down?s Syndrome), trisomy 18 (Edward?s
Syndrome), and trisomy 13 (Patau?s syndrome). Each of these symptoms
occurs due to an extra chromosome in the cell during embryonic
development. Down?s syndrome is the most frequent in occurrence. The
rate of having a child with Down?s syndrome in a mother at age 25 is
1:2000, a figure that rises to1:200 at age 35, and climbs to 1:40 for
mothers over the age of 40."

Department of Labor Studies and Industrial Relations, Penn State University

"We know that the rate of genetic abnormalities increases with a
woman's age, rising significantly after she has reached the age of 40.
There is not a similar rise in men."


In the last 10-20 years what are, in order the 3-5 most common birth
defects in children born to women over 40?

I have not been able to find that precise figure. I did locate some
detailed statistics from the records of the state of Texas, 1996-1997.
I believe these are likely to be representative of the United States
as a whole.

"The highest rates were found among older mothers for the following
birth defects: hydrocephaly; tetralogy of Fallot; ventricular septal
defect; atrial septal defect; endocardial cushion defect; pulmonary
valve atresia or stenosis; patent ductus arteriosus; Down syndrome;
and Edwards syndrome."

Texas Department of Health

(By "older mothers," the study refers to mothers over 35.)


Google search strategy:

Google Web Search: "birth defects" + "by age of mother"

Google Web Search: "birth defects" + "increase" + "age"

Google Web Search: "maternal age risks"


Thank you for a question that was quite interesting to research. I
hope this information will be useful. If anything is unclear, or if a
link does not function, please request clarification; I'll be glad to
offer further assistance before you rate my answer.

Best regards,

Request for Answer Clarification by sermonauthor-ga on 15 Feb 2004 02:37 PST
This is very good.

I meant to add in my request that my wife and I had a child born to
autism seven years before, which is what spurred much of our concern.

I understand there is a genetic component to autism. Do you know what
the chances of a second child with autism being born to the same
family are?

Clarification of Answer by pinkfreud-ga on 15 Feb 2004 12:43 PST
For a couple with one autistic child, the chance of having a second
child with autism is estimated at around 5% to 10%:

"Genes play a role in the cause of autism. If a family has one child
with autism, their chance of having a second child with autism is 1 in
20, approximately 50-100 times more likely than the general

University of Washington Autism Center 

"Scientists estimate that, in families with one autistic child, the
risk of having a second child with the disorder is approximately five
percent, or one in 20, which is greater than the risk for the general

National Institutes of Health Autism Fact Sheet 

"When parents have one autistic child, they have a higher risk of
having a second child with the disorder - a 5 percent to 10 percent
chance versus the 0.1 percent to 0.2 percent chance for unaffected

Vaccination News

"Scientists have known for some time that autism often runs in
families. Studies suggest that if one child is autistic, there's a 5%
to 10% chance that any sibling will be autistic, and a 30% to 40%
chance that the sibling will have milder, but related, problems."

USA Today

sermonauthor-ga rated this answer:5 out of 5 stars and gave an additional tip of: $5.00

Thank you for going the extra mile with me, pinkfreud. This was just
what I was looking for and will help me clarify the risks we faced by
going ahead with the pregnancy. We are Christians and don't believe in
abortion, so it was really a no-brainer for us. Still, having given
birth to a child with autism seven years before, we were deeply

I am new to Google Answers and have been browsing old questions for
fun and interest. I must say when I came upon your handle, long before
you answered my question I laughed at the awesome beauty of that
magnificent pun! Also, I chanced upon your response to a person from
May of 2003 who was in need of inspiration. And you quoted
"Footprints" which I have heard many times before, but never with the
addendum you offered:

But mostly I saw big, blurry ruts...
...where I sat on my butt and He dragged me along.

All I can say is I love your sense of humor and appreciate your time
in the research. God bless you.

Subject: Re: Birth Defects in Children Born to Women Over 40
From: pinkfreud-ga on 15 Feb 2004 16:04 PST
Many thanks for the kind words, the five stars, and the nice tip!

Much of the material that I gathered to answer your question was of
special interest to me, since my younger sister and her husband (both
in their forties) are trying to conceive their first child. My hopes
and prayers are with them, and with all those who believe that a baby
is the Lord's way of saying that the world should (for now, at least)
go on.


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